HLA-DQB1

Summary

Gene Symbol: HLA-DQB1
Description: major histocompatibility complex, class II, DQ beta 1
Alias: CELIAC1, HLA-DQB, IDDM1, HLA class II histocompatibility antigen, DQ beta 1 chain, MHC class II DQ beta chain, MHC class II HLA-DQ beta glycoprotein, MHC class II antigen DQB1, MHC class II antigen HLA-DQ-beta-1
Species: human

Top Publications

  1. doi IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population
    Folefac Aminkeng
    Diabetes Research Center, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium
    Hum Immunol 70:706-10. 2009
  2. doi HLA-Class II in Latin American patients with type 1 diabetes
    Adriana Rojas-Villarraga
    Center for Autoimmune Diseases Research, Universidad del Rosario, Bogota, Colombia
    Autoimmun Rev 9:666-73. 2010
  3. doi Genetic and diabetic auto-antibody markers in Saudi children with type 1 diabetes
    Hakbany Manan
    Department of Physiology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
    Hum Immunol 71:1238-42. 2010
  4. pmc GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma
    Karin E Smedby
    Department of Medicine, Clinical Epidemiology Unit, Karolinska Institutet, Stockholm, Sweden
    PLoS Genet 7:e1001378. 2011
  5. pmc Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?
    Andrea K Steck
    Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, Colorado, USA
    Diabetes 58:1028-33. 2009
  6. ncbi The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases
    R Lampis
    Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari 09121, Italy
    Hum Mol Genet 9:2959-65. 2000
  7. ncbi Residual insulin secretion at diagnosis of type 1 diabetes is independently associated with both, age of onset and HLA genotype
    A Petrone
    Endocrinology, Department of Clinical Sciences, La Sapienza University, Rome, Italy
    Diabetes Metab Res Rev 21:271-5. 2005
  8. ncbi Interleukin-12p40 gene (IL-12B) polymorphism and Type 1 diabetes mellitus in Japanese: possible role in subjects without having high-risk HLA haplotypes
    Jian Mei Yang
    Division of Endocrinology and Metabolism, Department of Medicine, Jichi Medical School, Yakushiji 3311 1, Minamikawachi, Tochigi 329 0498, Japan
    Diabetes Res Clin Pract 71:164-9. 2006
  9. pmc Trends in high-risk HLA susceptibility genes among Colorado youth with type 1 diabetes
    Kendra Vehik
    University of Colorado Denver, School of Medicine, Denver, Colorado, USA
    Diabetes Care 31:1392-6. 2008
  10. doi Human leukocyte antigen-DQ alleles and haplotypes and their associations with resistance and susceptibility to HIV-1 infection
    Rae Anne Hardie
    Department of Medical Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada
    AIDS 22:807-16. 2008

Research Grants

  1. DECREASING SEVERITY OF RECURRENT HEPATITIS C IN LIVER
    Lakshmi Gaur; Fiscal Year: 1999
  2. HLA-DQ Sequencing Studies in Narcolepsy/Hypocretin Deficiency
    Emmanuel J Mignot; Fiscal Year: 2012
  3. Genetic Susceptibility to Cervical Cancer
    Janet Rader; Fiscal Year: 2009
  4. William M Geisler; Fiscal Year: 2016
  5. Julie Horowitz; Fiscal Year: 2015
  6. LOCALIZED REVISION OF EPIGENETIC LANDSCAPES INDUCED BY DNA DOUBLE-STRAND BREAKS
    Barry P Sleckman; Fiscal Year: 2012
  7. Skin Homing T Cells -- Molecular Characterization of CLA
    Thomas S Kupper; Fiscal Year: 2012
  8. Barry P Sleckman; Fiscal Year: 2016
  9. ACTIVATION OF CELLULAR SIGNALING PATHWAYS BY DNA DOUBLE STRAND BREAKS
    Barry P Sleckman; Fiscal Year: 2013
  10. Karen E Hedin; Fiscal Year: 2015

Detail Information

Publications331 found, 100 shown here

  1. doi IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population
    Folefac Aminkeng
    Diabetes Research Center, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium
    Hum Immunol 70:706-10. 2009
    ..76, p = 0.19) and no interaction with HLA-DQ-linked risk. Furthermore, no genotype-phenotype correlation was observed. In conclusion, IFIH1 has no important role in T1D risk assessment in a registry-based Belgian population...
  2. doi HLA-Class II in Latin American patients with type 1 diabetes
    Adriana Rojas-Villarraga
    Center for Autoimmune Diseases Research, Universidad del Rosario, Bogota, Colombia
    Autoimmun Rev 9:666-73. 2010
    ..To identify and estimate the common effect size of HLA-Class II contributing to susceptibility on T1D in Latin America (LA) through a meta-analysis...
  3. doi Genetic and diabetic auto-antibody markers in Saudi children with type 1 diabetes
    Hakbany Manan
    Department of Physiology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
    Hum Immunol 71:1238-42. 2010
    ..In conclusion, these results show a strong association of HLA-DQB1*0201/0302 and DRB1*03/04 with T1DM. Thus, combining genetic markers with autoantibody is useful in a screening program for early detection of T1DM among Saudi children...
  4. pmc GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma
    Karin E Smedby
    Department of Medicine, Clinical Epidemiology Unit, Karolinska Institutet, Stockholm, Sweden
    PLoS Genet 7:e1001378. 2011
    ..These findings suggest that the HLA class II region plays a complex yet important role in NHL...
  5. pmc Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?
    Andrea K Steck
    Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, Colorado, USA
    Diabetes 58:1028-33. 2009
    ..We examined whether some of these alleles influence development of islet autoimmunity or progression from persistent islet autoimmunity to type 1 diabetes in children with high-risk HLA-DR,DQ genotypes...
  6. ncbi The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases
    R Lampis
    Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari 09121, Italy
    Hum Mol Genet 9:2959-65. 2000
    ..These results indicate that robust case-control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs...
  7. ncbi Residual insulin secretion at diagnosis of type 1 diabetes is independently associated with both, age of onset and HLA genotype
    A Petrone
    Endocrinology, Department of Clinical Sciences, La Sapienza University, Rome, Italy
    Diabetes Metab Res Rev 21:271-5. 2005
    ..We investigated whether residual insulin secretion and metabolic derangement at diagnosis of type 1 diabetes (T1DM) are influenced by human leukocyte antigens (HLA) class II genes...
  8. ncbi Interleukin-12p40 gene (IL-12B) polymorphism and Type 1 diabetes mellitus in Japanese: possible role in subjects without having high-risk HLA haplotypes
    Jian Mei Yang
    Division of Endocrinology and Metabolism, Department of Medicine, Jichi Medical School, Yakushiji 3311 1, Minamikawachi, Tochigi 329 0498, Japan
    Diabetes Res Clin Pract 71:164-9. 2006
    ..The IL-12B 3'UTR A-C polymorphism would be considered as a supplementary risk factor to T1DM in conjunction with HLA haplotypes...
  9. pmc Trends in high-risk HLA susceptibility genes among Colorado youth with type 1 diabetes
    Kendra Vehik
    University of Colorado Denver, School of Medicine, Denver, Colorado, USA
    Diabetes Care 31:1392-6. 2008
    ....
  10. doi Human leukocyte antigen-DQ alleles and haplotypes and their associations with resistance and susceptibility to HIV-1 infection
    Rae Anne Hardie
    Department of Medical Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada
    AIDS 22:807-16. 2008
    ..To determine the association of DQ antigens with resistance and susceptibility to HIV-1...
  11. doi Temporal trends of HLA genotype frequencies of type 1 diabetes patients in Sweden from 1986 to 2005 suggest altered risk
    Sabina Resic-Lindehammer
    Department of Clinical Sciences, Unit of Diabetes and Celiac Disease, University Hospital MAS, CRC Lund University, Ent 72 Bldg 91 Floor 10, 205 02 Malmo, Sweden
    Acta Diabetol 45:231-5. 2008
    ..0047) and to 5% in 2003-2005 (P > 0.05). This study in 1-18-year-old Swedish type 1 diabetes patients supports the notion that there is a temporal change in HLA risk...
  12. doi Genetic association of HLA DQB1 with CD4+CD25+(high) T-cell apoptosis in type 1 diabetes
    S Glisic
    Department of Pediatrics, Max McGee National Center for Juvenile Diabetes and Human Molecular Genetic Center, Medical College of Wisconsin, Children s Hospital of Wisconsin, Milwaukee, WI 53226, USA
    Genes Immun 10:334-40. 2009
    Type 1 diabetes (T1D) has a strong genetic component and the major locus lies in the HLA DQB1 region...
  13. doi Correlations between islet autoantibody specificity and the SLC30A8 genotype with HLA-DQB1 and metabolic control in new onset type 1 diabetes
    Caroline Brorsson
    Hagedorn Research Institute and Steno Diabetes Center, Gentofte, Denmark
    Autoimmunity 44:107-14. 2011
    ....
  14. ncbi Endocytosis of endogenously synthesized HIV-1 envelope protein. Mechanism and role in processing for association with class II MHC
    J F Rowell
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Immunol 155:473-88. 1995
    ....
  15. doi HLA-DPB1 associations differ between DRB1*03 positive anti-Jo-1 and anti-PM-Scl antibody positive idiopathic inflammatory myopathy
    Hector Chinoy
    Centre for Integrated Genomic Medical Research, University of Manchester, UK
    Rheumatology (Oxford) 48:1213-7. 2009
    ..The HLA-DPB1 gene is centromeric to other HLA class II loci and separated by a recombination hotspot. We investigated whether HLA-DPB1 associations differ between anti-Jo-1 and anti-PM-Scl antibody-positive IIM cases...
  16. ncbi Human leukocyte antigen class I and II alleles and risk of cervical neoplasia: results from a population-based study in Costa Rica
    S S Wang
    Interdisciplinary Studies Section, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7234, USA
    J Infect Dis 184:1310-4. 2001
    ..2-23.7). These results support the hypothesis that multiple risk alleles are needed in order to increase risk for cervical neoplasia, but a single protective allele may be sufficient for protection...
  17. ncbi Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE
    Robert R Graham
    Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
    Eur J Hum Genet 15:823-30. 2007
    ..These data provide convincing evidence that particular combinations of HLA Class II DR2 and DR3 haplotypes are key determinants of autoantibody production and disease susceptibility in human SLE...
  18. ncbi Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls
    Liene Nikitina-Zake
    Immunogenetics, Molecular Medicine, L8 00, Karolinska Hospital, Karolinska Institutet, 17176 Stockholm, Sweden
    Ann N Y Acad Sci 1037:161-9. 2004
    ..3), was higher. The maximum risk was when KIR2DL2, MICA5, and DR3/DR4 were in combination. In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM...
  19. pmc Diabetes-specific HLA-DR-restricted proinflammatory T-cell response to wheat polypeptides in tissue transglutaminase antibody-negative patients with type 1 diabetes
    Majid Mojibian
    Chronic Disease Program, Ottawa Hospital Research Institute, Ottawa, Canada
    Diabetes 58:1789-96. 2009
    ..However, questions arise regarding the frequency of abnormal immune responses to wheat and their nature, and it remains unclear whether such responses are diabetes specific...
  20. doi Type 1 diabetes patients born to immigrants to Sweden increase their native diabetes risk and differ from Swedish patients in HLA types and islet autoantibodies
    Ahmed J Delli
    Department of Clinical Sciences, Lund University, Malmo, Sweden
    Pediatr Diabetes 11:513-20. 2010
    ..We also determined whether they have different human leukocyte antigen (HLA) genetic markers and islet autoantibodies at diagnosis compared with Swedish patients...
  21. pmc HLA class I and genetic susceptibility to type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium
    Janelle A Noble
    Children s Hospital Oakland Research Institute, Oakland, California, USA
    Diabetes 59:2972-9. 2010
    ..We report here genotyping data and type 1 diabetes association analyses for HLA class I loci (A, B, and C) on 1,753 multiplex pedigrees from the Type 1 Diabetes Genetics Consortium (T1DGC), a large international collaborative study...
  22. ncbi Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B
    S Nejentsev
    Juvenile Diabetes Foundation Center for Type 1 Diabetes Prevention in Finland, Turku
    Diabetes 49:2217-21. 2000
    ..Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association...
  23. ncbi HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy
    M C Ellis
    Mercator Genetics, Inc, 4040 Campbell Ave, Menlo Park, CA 94025, USA
    Immunogenetics 46:410-7. 1997
    ..These results are consistent with other studies, suggesting that the HLA-DQ genes themselves are among the predisposing factors in narcolepsy...
  24. pmc Association between HLA class II gene and susceptibility or resistance to chronic hepatitis B
    Ye gui Jiang
    Institute of Infectious Diseases, Southwest Hospital, Third Military Medical University, Chongqing 400038, China
    World J Gastroenterol 9:2221-5. 2003
    ..To investigate the association between the polymorphism of HLA-DRB1, -DQA1 and -DQB1 alleles and viral hepatitis B...
  25. ncbi MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donor hematopoietic transplantation and disease association studies
    M Malkki
    The Division of Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Tissue Antigens 66:114-24. 2005
    ..Markers with high HSH values will be most informative in studies investigating MHC region disease-susceptibility genes where HLA haplotypic effects are known to exist...
  26. doi HLA class II alleles and chronic hepatitis C virus infection
    L O F Cangussu
    Viral Hepatitis Division, Instituto Alfa de Gastroenterologia, Hospital das Clínicas UFMG, Belo Horizonte, Minas Gerais, Brazil
    Scand J Immunol 74:282-7. 2011
    ....
  27. doi Genome-wide association study of HPV seropositivity
    Dan Chen
    International Agency for Research on Cancer, Lyon, France
    Hum Mol Genet 20:4714-23. 2011
    ..This study provides a proof of principle that genetic variation plays a role in antibody reactivity to HPV infection...
  28. ncbi Concordance for type 1 diabetes in identical twins is affected by insulin genotype
    K A Metcalfe
    Department of Diabetes and Metabolic Medicine, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, University of London, UK
    Diabetes Care 24:838-42. 2001
    ..The aim of this study was to determine whether two susceptibility genes were less prevalent in discordant twins compared with concordant twins...
  29. ncbi HLA in Czech adult patients with autoimmune diabetes mellitus: comparison with Czech children with type 1 diabetes and patients with type 2 diabetes
    M Cerna
    Department of Cell and Molecular Biology, Third Medical Faculty of Charles University, Prague, Czech Republic
    Eur J Immunogenet 30:401-7. 2003
    ..Type 1 diabetes mellitus (DM) in children or adults may have partly different immunogenetic etiopathogenesis than LADA...
  30. ncbi Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence
    R Hermann
    JDRF Center for Prevention of Type I Diabetes in Finland, University of Turku, Turku, Finland
    Diabetes Metab Res Rev 20:322-9. 2004
    ..To develop screening strategies for identification of individuals at increased genetic risk for type 1 diabetes in three populations with variable disease incidence rates and distinct ethnic origin...
  31. ncbi Contribution of selective HLA-DRB1/DQB1 alleles and haplotypes to the genetic susceptibility of type 1 diabetes among Lebanese and Bahraini Arabs
    Fayza A Al-Jenaidi
    Al Jawhara Center for Molecular Medicine, Genetics, and Inherited Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, P O Box 22979, Manama, Bahrain
    J Clin Endocrinol Metab 90:5104-9. 2005
    ....
  32. ncbi VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile
    Diego Garcia
    Genetic Epidemiology Laboratory, Nutrition and Food Technology Institute, University of Chile, Santiago, Chile
    Diabetes Res Clin Pract 77:134-40. 2007
    ....
  33. pmc Nephropathy in type 1 diabetes is diminished in carriers of HLA-DRB1*04: the genetics of kidneys in diabetes (GoKinD) study
    Suzanne K Cordovado
    Centers for Disease Control and Prevention, 4770 Buford Hwy, MS F 24, Atlanta, GA 30341, USA
    Diabetes 57:518-22. 2008
    ..The availability of phenotypic and genotypic data on GoKinD participants allowed a detailed analysis of the association of these genes with diabetic nephropathy...
  34. doi From Type 1, through LADA, to type 2 diabetes: a continuous spectrum?
    J Lin
    Diabetes Center, Institute of Metabolism and Endocrinology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China
    Ann N Y Acad Sci 1150:99-102. 2008
    ..The preliminary data demonstrated that the susceptible haplotypes of the HLA-DQ gene present a continuous spectrum from typical T1DM, through LADA, to T2DM, which deserves further investigation...
  35. doi Polymorphisms of CXCR3-binding chemokines in type 1 diabetes
    Patrick Bruck
    Department of Internal Medicine IV, Division of Haematology and Oncology, University Hospital Giessen and Marburg, Germany
    Hum Immunol 70:552-5. 2009
    ..Although we did not find an association of the CXCL9 and CXCL10 polymorphisms with type 1 diabetes in the German population, we cannot discard their role in other populations or other autoimmune diseases...
  36. doi An inverse association between history of childhood eczema and subsequent risk of type 1 diabetes that is not likely to be explained by HLA-DQ, PTPN22, or CTLA4 polymorphisms
    Lars C Stene
    Division of Epidemiology, Norwegian Institute of Public Health, NO 0403 Oslo, Norway
    Pediatr Diabetes 11:386-93. 2010
    ....
  37. pmc The association between the PTPN22 1858C>T variant and type 1 diabetes depends on HLA risk and GAD65 autoantibodies
    M Maziarz
    Department of Biostatistics, University of Washington, Seattle, WA 98195 7232, USA
    Genes Immun 11:406-15. 2010
    ..We hypothesize that the altered T-cell function because of the PTPN22(1858C>T) polymorphism is exclusively associated with GADA-positive T1D at diagnosis...
  38. pmc Latent autoimmune diabetes in adults differs genetically from classical type 1 diabetes diagnosed after the age of 35 years
    Mette K Andersen
    Research Program for Molecular Medicine, Helsinki University, Helsinki, Finland
    Diabetes Care 33:2062-4. 2010
    ..We studied differences between patients with latent autoimmune diabetes in adults (LADA), type 2 diabetes, and classical type 1 diabetes diagnosed after age 35 years...
  39. pmc Type 1 diabetes-associated HLA-DQ8 transdimer accommodates a unique peptide repertoire
    Menno van Lummel
    Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
    J Biol Chem 287:9514-24. 2012
    ..Our findings provide a molecular basis for the association between HLA-DQ transdimers and T1D and set the stage for rational testing of potential diabetogenic peptide epitopes...
  40. ncbi L-selectin gene T668C mutation in type 1 diabetes patients and their first degree relatives
    A Kretowski
    Department of Endocrinology, Medical School Biatystok, U1 M C Skl and z shtsls odowska Curie 24 a, 15 267, Bial and z shtsls ystok, Poland
    Immunol Lett 74:225-8. 2000
    ..highest frequency of F206L mutation in the EGF domain of L-selectin was observed in relatives with 'protective' HLA DQB1*0602 allele and nonDRB1*03-nonDRB1*04 haplotype, while in subjects with highest risk of IDDM haplotype the ..
  41. ncbi MICA-A5.1 allele is associated with atypical forms of celiac disease in HLA-DQ2-negative patients
    Antonio Lopez-Vazquez
    Department of Immunology, Hospital Central de Asturias, C Celestino Villamil, 33 006 Oviedo, Spain
    Immunogenetics 53:989-91. 2002
    ..002). No other MICA allele was found to be significantly increased in the groups under study. The presence of MICA-A5.1 in atypical CD DQ2-negative patients may indicate a possible role of this allele in the development of CD...
  42. ncbi Does HLA genotype influence the relative risk of Type 1 diabetes conferred by dietary factors?
    L C Stene
    Diabet Med 19:429-31. 2002
  43. ncbi NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children
    Ondrej Cinek
    Second Department of Paediatrics, Second Faculty of Medicine, Charles University, V Uvalu 84, Prague 5 CZ 150 06, Czech Republic
    Diabetes Res Clin Pract 60:49-56. 2003
    ..No association was observed for the Pro197His mutation which was carried by 5.3% cases and 5.9% controls. Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM...
  44. ncbi Type 1 diabetes in Jewish Ethiopian immigrants in Israel: HLA class II immunogenetics and contribution of new environment
    A Zung
    Pediatric Endocrinology Unit, Kaplan Medical Center, Rehovot, Israel
    Hum Immunol 65:1463-8. 2004
    ..621, p = 0.04). We concluded that ongoing exposure of genetically predisposed immigrants from Ethiopia to diabetogenic environmental factors eventually leads to a high incidence of overt diabetes in this ethnic group...
  45. ncbi Risk of celiac disease in children with type 1 diabetes is modified by positivity for HLA-DQB1*02-DQA1*05 and TNF -308A
    Zdenek Sumnik
    Motol University Hospital, Charles University Prague, V Uvalu 84, CZ 150 06, Prague, The Czech Republic
    Diabetes Care 29:858-63. 2006
    ....
  46. ncbi Immunogenetics of HLA class II in Israeli patients with adult-onset type 1 diabetes mellitus
    Dania Hirsch
    Department of Endocrinology, Rabin Medical Center, Beilinson Campus, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Hum Immunol 68:616-22. 2007
    ..It may be concluded that the different ages of onset of T1D and its different forms of development in Israeli patients are apparently not caused by a different prevalence of HLA class II alleles...
  47. ncbi The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1
    Zaheed Husain
    Immune Disease Institute, 800 Huntington Avenue, Boston, MA 02115, USA
    J Autoimmun 30:266-72. 2008
    ....
  48. doi Variations of the perforin gene in patients with type 1 diabetes
    Elisabetta Orilieri
    Interdisciplinary Research Center of Autoimmune Diseases and Department of Medical Sciences, A Avogadro University of Eastern Piedmont, Novara, Italy
    Diabetes 57:1078-83. 2008
    ..The aim of this work was to investigate the role of PRF1 variations in type 1 diabetes...
  49. doi HLA-DR-DQ haplotypes and type 1 diabetes in Macedonia
    Jorma Ilonen
    Immunogenetics Laboratory, University of Turku, Turku, Finland
    Hum Immunol 70:461-3. 2009
    ....
  50. doi Association of IL-2RA/CD25 with type 1 diabetes in the Belgian population
    Folefac Aminkeng
    Diabetes Research Center, Faculty of Medicine and Pharmacy, Brussels Free University Vrije Universiteit Brussel VUB, Brussels, Belgium
    Hum Immunol 71:1233-7. 2010
    ..015). In conclusion, IL-2RA/CD25 is associated with type 1 diabetes in the Belgian population, independently of disease phenotype and other biologic markers...
  51. pmc Predictors of associated autoimmune diseases in families with type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium
    Ana M Wägner
    Endocrinology Department, Complejo Hospitalario Universitario Insular Materno Infantil, de Gran Canaria, Spain
    Diabetes Metab Res Rev 27:493-8. 2011
    ..The aim of this study was to find predictors of AAIDs in the Type 1 Diabetes Genetics Consortium data set...
  52. ncbi HLA-DQ A1, -DQB1 and -DRB1 gene polymorphism--in Malay type 1 diabetes mellitus patients and their use for risk prediction
    A G Rohana
    Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia
    Med J Malaysia 66:133-7. 2011
    ..The lower incidence of type 1 DM in the Malay population may be contributed by the genotypic combinations of DR and DQ genes as well as the linkage disequilibria between susceptible and protective alleles...
  53. doi Age-related islet autoantibody incidence in offspring of patients with type 1 diabetes
    A G Ziegler
    Institute of Diabetes Research, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, 85764 Neuherberg, Germany
    Diabetologia 55:1937-43. 2012
    ..Seroconversion to islet autoantibodies precedes type 1 diabetes. This study aimed to identify periods of high seroconversion incidence, which could be targeted for mechanistic and therapeutic studies...
  54. ncbi Reciprocal modulation of transcriptional activities between HIV-1 Tat and MHC class II transactivator CIITA
    H Okamoto
    Department of Molecular Genetics, Nagoya City University Medical School, 1 Kawasumi, Mizuho cho, Mizuho ku, Nagoya, Aichi, 467 8601, Japan
    Biochem Biophys Res Commun 279:494-9. 2000
    ..These reciprocal actions between Tat and CIITA not only explains the functional impairment of APC in HIV-1 infection but also rationalizes the suppression of HIV-1 virus load by induction of CIITA such as IFN-gamma...
  55. ncbi HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitus
    A P M Fernandes
    Department of General and Specialized Nursing, School of Nursing of Ribeirao Preto, University of Sao Paulo, 14 049 902, Ribeirao Preto, Sao Paulo, Brazil
    Ann N Y Acad Sci 958:305-8. 2002
    ..In addition to HLA-DRB1*15 and DQB1*0602 alleles, DRB1*11, DRB1*13, and DQA1*01 allele groups were associated with protection against the development of type 1 diabetes in Brazilian patients...
  56. ncbi HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease
    J R Bilbao
    Endocrinology and Diabetes Research Unit, Hospital de Cruces, Barakaldo, Basque Country, Spain
    Tissue Antigens 60:71-6. 2002
    ..Finally, the major histocompatibility complex region's conferred susceptibility to CD, at least in Basque, is very similar to that observed for DM1, with shared risk and protective haplotypes...
  57. ncbi HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms do not seem to be risk markers for severe retinopathy in younger Type 1 diabetic patients
    Elisabet Agardh
    Department of Ophthalmology, University Hospital MAS, SE 205 02 Malmo, Sweden
    J Diabetes Complications 18:32-6. 2004
    ....
  58. ncbi The rare HLA-DQA1*03-DQB1*02 haplotype confers susceptibility to type 1 diabetes in whites and is preferentially associated with early clinical disease onset in male subjects
    Jan E van Autreve
    Diabetes Research Center, Molecular Diagnosis, Vrije Universteit Brussel, B 1070 Brussels, Belgium
    Hum Immunol 65:729-36. 2004
    ..These results are compatible with an effect of cis-encoded heterodimers or with previously suggested interactions of X-linked genetic factors with (DR3-)DQB1*02 haplotypes...
  59. ncbi Human leukocyte antigen non-class II determinants for type 1 diabetes in the Finnish population
    Zsofia Gombos
    Immunogenetics Laboratory, University of Turku, Turku, Finland
    Hum Immunol 67:714-21. 2006
    ..Another locus close to D6S273 may also have an effect. For the first time we report that a locus near the C143 marker appear to affect disease association of the DRB1*08-DQB1*04 haplotype...
  60. ncbi Fetal growth is increased by maternal type 1 diabetes and HLA DR4-related gene interactions
    M Hummel
    Institute of Diabetes Research and Academic Hospital Schwabing, Kolner Platz 1, 80804, Munchen, Germany
    Diabetologia 50:850-8. 2007
    ..The aim of this study was to determine whether HLA DR4 was associated with increased birthweight in a maternal diabetes environment and whether effects persisted during early childhood...
  61. ncbi TNFa microsatellite polymorphism modulates the risk of type 1 diabetes in the Belgian population, independent of HLA-DQ
    Folefac Aminkeng
    Diabetes Research Center, Molecular Diagnosis Unit, Vrije Universiteit Brussel, Brussels, Belgium
    Hum Immunol 68:690-7. 2007
    ....
  62. doi Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex
    M K Viken
    Institute of Immunology, Faculty Division Rikshospitalet, University of Oslo, Oslo, Norway
    Genes Immun 10:323-33. 2009
    ..Taken together, our results identify PRSS16 and BTN3A2, two genes thought to play important roles in regulating the immune response, as potentially novel susceptibility genes for T1D...
  63. doi The type 1 diabetes protective HLA DQB1*0602 allele is less frequent in gestational diabetes mellitus
    A Papadopoulou
    Department of Clinical Sciences, Unit of Diabetes and Celiac Disease, Lund University CRC, Malmo, Sweden
    Diabetologia 52:1339-42. 2009
    ..We tested whether gestational diabetes mellitus (GDM) is associated with HLA-DQ genotypes...
  64. pmc Autoimmune type 1 diabetes genetic susceptibility encoded by human leukocyte antigen DRB1 and DQB1 genes in Tunisia
    Mouna Stayoussef
    Research Unit of Hematological and Autoimmune Diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia
    Clin Vaccine Immunol 16:1146-50. 2009
    ....
  65. pmc Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes
    Taylor M Triolo
    Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Health Science Center, Aurora, CO 80045, USA
    J Clin Endocrinol Metab 94:4517-23. 2009
    ..Subjects with type 1 diabetes (T1D) are at increased risk for AD. Genetic factors including HLA-DRB1*0404 and MICA have been associated with AD in populations with and without T1D...
  66. pmc HLA genotyping in the international Type 1 Diabetes Genetics Consortium
    Josyf C Mychaleckyj
    Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA
    Clin Trials 7:S75-87. 2010
    ....
  67. pmc Effect of HLA class I and class II alleles on progression from autoantibody positivity to overt type 1 diabetes in children with risk-associated class II genotypes
    Kati Lipponen
    Immunogenetics Laboratory, University of Turku, Turku, Finland
    Diabetes 59:3253-6. 2010
    ..To test this hypothesis we analyzed the role of HLA class I and class II gene polymorphisms in the progression from diabetes-associated autoimmunity to clinical disease...
  68. ncbi Human leukocyte antigen class I and class II allele frequencies and HIV-1 infection associations in a Chinese cohort
    Shu Li
    Vaccine Laboratory, Nankai University, Tianjin, China
    J Acquir Immune Defic Syndr 44:121-31. 2007
    ..These data contribute to the database of allele frequencies and associations with HIV infection in the Chinese population...
  69. doi Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families
    M C Eike
    Institute of Immunology, Rikshospitalet University Hospital, Oslo, Norway
    Genes Immun 10:141-50. 2009
    ..Our results illustrate the importance of a comprehensive adjustment for LD effects when performing association studies in this complex...
  70. pmc HLA class II associations with rheumatic heart disease among clinically homogeneous patients in children in Latvia
    Valda Stanevicha
    Department of Pediatrics, Riga Stradins University, Riga, Latvia
    Arthritis Res Ther 5:R340-6. 2003
    ..In Sydenham's chorea patients, the DQB1*0401-2 allele was more frequent. Genotyping control showed a high risk of RF and RHD in patients with DRB1*01-DQB1*0301-DRB1*07-DQB1*0302 and DRB1*15-DQB1*0302-DRB1*07-DQB1*0303...
  71. ncbi The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes
    Kathleen M Gillespie
    Diabetes and Metabolism, Division of Medicine, University of Bristol, Bristol, UK
    Lancet 364:1699-700. 2004
    ..003), especially in those diagnosed at age 5 years or younger, which is consistent with the hypothesis that the rise of type 1 diabetes is due to a major environmental effect...
  72. ncbi HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study
    Peter T Donaldson
    School of Clinical Medical Sciences Hepatology, Faculty of Medical Sciences, University of Newcastle, Newcastle upon Tyne, and Institute of Liver Studies, Kings College Hospital, London, UK
    Hepatology 44:667-74. 2006
    ..042, OR=0.65 in the UK patients; and 10% versus 31%, P=.00092, OR=0.25 in the Italian patients). In conclusion, a complex relationship exists between HLA and PBC, and some genetic associations may be population specific...
  73. ncbi A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness
    Seung Chul Hong
    Department of Neuropsychiatry, St Vincent s Hospital, Catholic University of Korea, Suwon, Korea
    Sleep 29:1429-38. 2006
    ....
  74. ncbi HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlap
    L R Wedderburn
    Rheumatology Unit, Institute of Child Health, UCL, 30 Guilford Street, London WC1N 1EH, UK
    Rheumatology (Oxford) 46:1786-91. 2007
    ..To investigate a large cohort of children with juvenile dermatomyositis (JDM), and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization...
  75. pmc Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1)
    Vincent Butty
    Section on Immunology and Immunogenetics, Joslin Diabetes Center, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Diabetes 57:2348-59. 2008
    ....
  76. pmc HLA haplotype and supertype associations with cellular immune responses and cytokine production in healthy children after rubella vaccine
    Inna G Ovsyannikova
    Mayo Vaccine Research Group, Mayo Clinic, Rochester, MN 55905, USA
    Vaccine 27:3349-58. 2009
    ....
  77. pmc Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls
    Frank C Arnett
    Division of Rheumatology, Department of Internal Medicine, The University of Texas Health Science Center at Houston UTHSC H, 6431 Fannin Street, MSB 5 270, Houston, TX 77030, USA
    Ann Rheum Dis 69:822-7. 2010
    ....
  78. pmc Refining the association of MHC with multiple sclerosis in African Americans
    Joseph P McElroy
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    Hum Mol Genet 19:3080-8. 2010
    ....
  79. pmc HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia
    Eleonora Cocco
    Department Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy
    PLoS ONE 7:e33972. 2012
    ....
  80. ncbi Possible human leukocyte antigen-mediated genetic interaction between type 1 and type 2 Diabetes
    H Li
    Diabetes and Endocrine Research Laboratory, Department of Endocrinology, Lund University, S 20502 Malmo, Sweden
    J Clin Endocrinol Metab 86:574-82. 2001
    ..The findings support a possible genetic interaction between type 1 and type 2 diabetes mediated by the HLA locus...
  81. pmc HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with disease progression and disease susceptibility
    P Donaldson
    Centre for Liver Research, 4th Floor Willliam Leech Building, University of Newcastle, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Gut 48:397-402. 2001
    ..PBC is heterogeneous and genetic associations with disease progression may be obscured when the PBC population is analysed only as a whole and not subdivided...
  82. ncbi HLA class I and class II allele and haplotype diversity in Martinicans
    O Bera
    Laboratoire de Virologie Immunologie, CHU de Fort de France, Martinique
    Tissue Antigens 57:200-7. 2001
    ....
  83. ncbi HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical and autoantibody subsets
    Mauro Galeazzi
    Istituto di Reumatologia, Universita di Siena, Siena, Italy
    Medicine (Baltimore) 81:169-78. 2002
  84. ncbi Macrophages from high-risk HLA-DQB1*0201/*0302 type 1 diabetes mellitus patients are hypersensitive to lipopolysaccharide stimulation
    A Plesner
    Department of Medicine, University of Washington, Seattle Department of Veterans Affairs, Puget Sound Health Care System, Seattle, WA, USA
    Scand J Immunol 56:522-9. 2002
    ..interleukin (IL)-1beta, IL-6, IL-12 and prostaglandin E-2 (PGE-2) secretion from hetero- or homozygous HLA DQB1*0201 and *0302 type 1 diabetes mellitus patients, first-degree relatives and homozygous HLA DQB1*0602 healthy ..
  85. ncbi Reduced frequency of HLA DRB1*03-DQB1*02 in children with type 1 diabetes associated with enterovirus RNA
    Maria E Craig
    Institute of Endocrinology, The Children s Hospital at Westmead, Sydney, Australia
    J Infect Dis 187:1562-70. 2003
    ..1) tested positive for enterovirus RNA (P=.04). These results suggest that there is a subgroup of patients with T1DM, who are at low genetic risk, in whom enteroviruses contribute to diabetes onset...
  86. ncbi HLA-DQ polymorphisms modify the risk of thyroid autoimmunity in children with type 1 diabetes mellitus
    Z Sumnik
    2nd Department of Pediatrics, 2nd Medical School, Charles University, Prague, Czech Republic
    J Pediatr Endocrinol Metab 16:851-8. 2003
    ..PATIENTS AND METLHODS: Screening for TAI was performed in 285 children with DM1 by measuring autoantibodies against thyroid peroxidase (anti-TPO) and thyroglobulin (anti-Tg). HLA-DQA1 and -DQB1 were genotyped using PCR-SSP...
  87. ncbi Genetic prediction of type 1 diabetes in a population with low frequency of HLA risk genotypes and low incidence of the disease (the DIABFIN study)
    R Buzzetti
    Endocrinology, Department of Clinical Sciences, La Sapienza University, Rome, Italy
    Diabetes Metab Res Rev 20:137-43. 2004
    ....
  88. ncbi Screening of coeliac disease in north Italian children with type 1 diabetes: limited usefulness of HLA-DQ typing
    G Contreas
    Childhood Diabetes Unit, University of Verona, Verona, Italy
    Acta Paediatr 93:628-32. 2004
    ..To determine the contribution of HLA-DQA1* and HLA-DQB1* genes to the risk of coeliac disease (CD) in a cohort of children with type 1 diabetes mellitus (T1DM) from northern Italy...
  89. ncbi Molecular basis of predisposition to develop type 1 diabetes mellitus in North Indians
    R Rani
    Neuroimmunology Laboratory, National Institute of Immunology, Aruna Asafali Marg, New Delhi, India
    Tissue Antigens 64:145-55. 2004
    ..31 (IDDM1) has been the major contributor, followed by 5' regulatory region of the insulin (INS) gene on chromosome 11p15...
  90. ncbi The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone
    Maria Giovanna Marrosu
    Centro Sclerosi Multipla, Dipartimento di Neuroscienze, University of Cagliari, Italy
    Hum Mol Genet 13:2919-24. 2004
    ..The data suggest that variation at other non-HLA class II loci, and/or unknown environmental factors contribute significantly to the co-occurrence of these two traits...
  91. pmc Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4
    Elena Urcelay
    Immunology Department, Hospital Universitario San Carlos, Madrid, Spain
    BMC Genomics 6:56. 2005
    ..We aimed to corroborate whether this haplotype increases the susceptibility conferred by the DQ2-DR3 alleles in a Mediterranean population. We also searched for additional susceptibility factors to the classic DQ2-DR3 and DQ8-DR4...
  92. ncbi The relation between size at birth and risk of type 1 diabetes is not influenced by adjustment for the insulin gene (-23HphI) polymorphism or HLA-DQ genotype
    L C Stene
    Division of Epidemiology, Norwegian Institute of Public Health, P O Box 4404, Nydalen, NO 0403, Oslo, Norway
    Diabetologia 49:2068-73. 2006
    ....
  93. ncbi A screening system for detecting genetic risk markers of type 1 diabetes in dried blood spots
    Paul Dantonio
    Division of Laboratory Sciences, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Diabetes Technol Ther 8:433-43. 2006
    ..A commercially available assay to detect such alleles has recently become available using a dissociation- enhanced lanthanide fluorescence system found in many newborn screening laboratories...
  94. pmc An association analysis of the HLA gene region in latent autoimmune diabetes in adults
    M Desai
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 50:68-73. 2007
    ..Our aim was to define patterns of HLA-encoded susceptibility/protection in a large, well characterised LADA cohort, and to establish association with disease and age at diagnosis...
  95. doi Frequencies of genetic polymorphisms of TLR4 and CD14 and of HLA-DQ genotypes in children with celiac disease, type 1 diabetes mellitus, or both
    A Dezsofi
    First Department of Pediatrics, Semmelweis University, Hungary
    J Pediatr Gastroenterol Nutr 47:283-7. 2008
    ....
  96. ncbi A genome-wide search for human type 1 diabetes susceptibility genes
    J L Davies
    Nuffield Department of Surgery, University of Oxford, John Radcliffe Hospital, Headington, UK
    Nature 371:130-6. 1994
    ..In addition to IDDM1 (in the major histocompatibility complex on chromosome 6p21) and IDDM2 (in the insulin gene region on chromosome ..
  97. ncbi The nonpolymorphic MHC class II isotype, HLA-DQA2, is expressed on the surface of B lymphoblastoid cells
    G B Rudy
    Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Australia
    J Immunol 158:2116-25. 1997
    ..In neither case was DQA2 found to dimerize with an MHC class II beta-chain. Despite this, DQA2 is capable of forming a complex with invariant chain...
  98. ncbi Rheumatoid arthritis in southern Spain: toward elucidation of a unifying role of the HLA class II region in disease predisposition
    M Pascual
    Instituto de Parasitología y López Neyra, Biomedicina, CSIC, Granada, Spain
    Arthritis Rheum 44:307-14. 2001
    ....
  99. ncbi The HLA-DPB1--associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1
    F Cucca
    Department of Biomedical Science and Biotechnology, University of Cagliari, Italy
    Diabetes 50:1200-5. 2001
    ..major histocompatibility complex (MHC) HLA region on chromosome 6p21 contains the major locus of type 1 diabetes (IDDM1). Common allelic variants at the class II HLA-DRB1, -DQA1, and -DQB1 loci account for the major part of IDDM1...
  100. ncbi Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes
    K H Lee
    Laboratory of Molecular Medicine, The Department of Medicine, The Children s Hospital, 320 Longwood Avenue, Boston, MA 02115, USA
    Nat Immunol 2:501-7. 2001
    ..Correlating type 1 diabetes epidemiology and MHC sequences with the DQ8 structure suggests that other structural features of the P9 pocket in addition to position 57 contribute to susceptibility to type 1 diabetes...
  101. ncbi HLA polymorphism in the Murcia population (Spain): in the cradle of the archaeologic Iberians
    M Muro
    Service of Immunology, University Hospital Virgen de la Arrixaca, Murcia, Spain
    Hum Immunol 62:910-21. 2001
    ..Thus, Murcian population seems to belong to the European genetic pool, revealing a lesser genetic distance with the North Africans and the rest of populations from the Iberian Peninsula...

Research Grants74

  1. DECREASING SEVERITY OF RECURRENT HEPATITIS C IN LIVER
    Lakshmi Gaur; Fiscal Year: 1999
    ....
  2. HLA-DQ Sequencing Studies in Narcolepsy/Hypocretin Deficiency
    Emmanuel J Mignot; Fiscal Year: 2012
    ..PUBLIC HEALTH RELEVANCE (provided by applicant): Narcolepsy affects 1/2000 Americans and is a common neurological disorder. The proposed study may lead to new therapeutic avenues for the disorder. ..
  3. Genetic Susceptibility to Cervical Cancer
    Janet Rader; Fiscal Year: 2009
    ..We will select candidate genes that appear critical for the development of the cancer, including the HLA DQB1/DRB1 locus and other immune markers, genes that are cellular targets of HPV E6, E7, and E5 oncoproteins, and ..
  4. William M Geisler; Fiscal Year: 2016
    ..Study findings should provide systemic and mucosal immune correlates of protection needed for CT vaccine studies. ..
  5. Julie Horowitz; Fiscal Year: 2015
    ....
  6. LOCALIZED REVISION OF EPIGENETIC LANDSCAPES INDUCED BY DNA DOUBLE-STRAND BREAKS
    Barry P Sleckman; Fiscal Year: 2012
    ..We now propose to identify histone modifications that function as intermediates to coordinate the normal repair of DNA-DSBs in mammalian cells. ..
  7. Skin Homing T Cells -- Molecular Characterization of CLA
    Thomas S Kupper; Fiscal Year: 2012
    ..Knowledge generated from this grant application over the next five years will have a significant impact on both areas. ..
  8. Barry P Sleckman; Fiscal Year: 2016
    ..Furthermore, we will elucidate the mechanisms that lead to the frequent aberrant resolution of DNA breaks as chromosomal translocations in ATM-deficient cells. ..
  9. ACTIVATION OF CELLULAR SIGNALING PATHWAYS BY DNA DOUBLE STRAND BREAKS
    Barry P Sleckman; Fiscal Year: 2013
    ..Here, we propose to elucidate the genetic program initiated by H2AX, identify the transcriptional pathways that are activated, and determine how they are activated by H2AX. ..
  10. Karen E Hedin; Fiscal Year: 2015
    ....
  11. Dengue Epitope Vaccine,Tetravalent & MHCII-Targeted
    J Thomas August; Fiscal Year: 2007
    ..abstract_text> ..
  12. Pulmonary Interactions with Innate Immunity
    DAVID LINN PERKINS; Fiscal Year: 2013
    ..This proposal will examine biochemical and biological pathways that may lead to the development of candidates for therapeutic intervention for asthma. ..
  13. STREP, HOST FACTORS, AUTOANTIBODIES & TOURETTE SYNDROME
    Harvey Singer; Fiscal Year: 2000
    ..The long-term objective is the documentation of specific immune-mediated mechanism for TS. ..
  14. Anti-CTLA-4 Monoclonal Antibody Therapy for Lymphoma
    John Timmerman; Fiscal Year: 2005
    ..abstract_text> ..
  15. HUMAN T LYMPHOCYTE RESPONSE TO VIRAL ANTIGENS
    Thomas Braciale; Fiscal Year: 1991
    ..In addition, these studies should help to elucidate the similarities and differences in the mechanism of antigen presentation to "helper" and "killer" T lymphocytes and thereby provide an important framework for future vaccine design...
  16. SPONTANEOUS REGRESSION BIOMARKERS IN CERVIX DYSPLASIA
    Gloria Ho; Fiscal Year: 2003
    ..HPV types 6, 16, 18, 31, 53, and 58, (2) cell-mediated immunity (CMI) to HPV 16 E6 and E7 peptides, (3) class II HLA DQB1 and DRB1 alleles, (4) plasma ascorbic acid level, and (5) red blood cell (RBC) folate level...
  17. Degeneracy and Complexity in the Immune System
    Eli Sercarz; Fiscal Year: 2006
    ..abstract_text> ..
  18. Characterization of V(D)J cleavage and repair complexes
    PATRICK SWANSON; Fiscal Year: 2007
    ..abstract_text> ..
  19. HPV AND CERVIX NEOPLASIA--A CASE CONTROL STUDY
    Hans Olov Adami; Fiscal Year: 1999
    ..These data will be used on a number of different analyses including conditional logistic regression. ..
  20. CCR4 IN SKIN LYMPHOCYTE HOMING AND IMMUNITY
    James Campbell; Fiscal Year: 2000
    ..These studies promise to define a critical component of lymphocyte recruitment to systemic sites inflammation, and may lead to novel therapeutic approaches in cutaneous (i.e. psoriasis) and other inflammatory diseases. ..
  21. Bimp3 in Antigen Receptor Signaling and MALT Lymphoma
    LINDA MCALLISTER LUCAS; Fiscal Year: 2007
    ..This training experience will ultimately lead to transition to the status of independent investigator. ..
  22. GENETIC CONTROL OF BB RAT AUTOIMMUNITY
    Ake Lernmark; Fiscal Year: 2009
    ..the complexity of human and NOD mouse T1D, onset in the BB rat is limited to five genes;the MHC on chromosome 20 (Iddm1), lyp (Ian5) (Iddm2) on chromosome 4 and three susceptibility factors on chromosomes 2 (IddmS), 4 (Iddm4) and 15 (..
  23. Multifactorial Genetic Disease Model:Schizophrenial/HLA
    Wendie Robbins; Fiscal Year: 2003
    ..The candidate lacks the training necessary for research at the gene or gene and gene/environment interaction level. Schizophrenia (as an example of a complex genetic disorder) will provide an excellent model for training. ..
  24. GENETICS OF HUMAN LYMPHOCYTE ANTIGEN CD8
    Paula Kavathas; Fiscal Year: 2001
    ..These cells have promise as immunotherapeutic agents by in vitro sensitization and injection into patients. Being able to target genes to this lineage could enhance the ability to develop these cells for immunotherapy. ..
  25. Structure Function Analysis of T Cell E-Selectin Ligands
    Robert Fuhlbrigge; Fiscal Year: 2007
    ..abstract_text> ..
  26. IMMUNOLOGY OF A MAJOR IDIOTYPE
    Jan Cerny; Fiscal Year: 1980
    ..The possible role of other self-determinants, in particular, products of MHC genes in recognition and differentiation of T15, will also be studied...
  27. Immunosuppression and regulatory T cells in aging
    Claire Chougnet; Fiscal Year: 2006
    ..abstract_text> ..
  28. Regulation of NK Cell Function by Vav-family Proteins
    Wojciech Swat; Fiscal Year: 2006
    ..ITAM-containing adaptors. Here, we propose to use several in vitro and in vivo approaches to determine Vav mechanism in NK cell function and development of natural cytotoxicity against virally-infected and tumor cells. ..
  29. GENETICS OF T-LYMPHOCYTE ANTIGEN RECEPTORS
    Edward Palmer; Fiscal Year: 1992
    ..Finally, we will study the effects of background genes on the positive selection of a single T cell receptor in a T cell receptor transgenic mouse...
  30. BIOLOGIC & CLINICAL PROPERTIES OF CD4 STRUCTURAL ANALOGS
    Neal Flomenberg; Fiscal Year: 2001
    ..The composite information gained should allow assessment of the efficacy of the present generation of CD4 analogs as well as the design and preclinical testing of next generation products. ..
  31. IL-12 as an Adjuvant for a Melanoma Peptide Vaccine
    Jeffrey Weber; Fiscal Year: 2003
    ..The results of those assays will be used to design randomized phase III trials for resected high risk melanoma and to develop strategies for overcoming antigen-specific unresponsiveness in melanoma patients. ..
  32. HPV DNA VACCINE FOR CERVICAL PRE NEOPLASIA
    Jeffrey Weber; Fiscal Year: 2003
    ..To insure that spontaneous regression does not account for a portion of the responses, baseline measurements will be followed one month later by a second set of assessments prior to the start of the vaccine. ..
  33. Dendritic Cell Vaccination During Lymphoid Reconstitution
    Jeffrey Weber; Fiscal Year: 2008
    ..Toxicity as well as clinical response will be secondary endpoints. The cohort with the optimal level of immune response will be taken forward in future studies. ..
  34. IN VITRO/IN VIVO ACTIVATED DENDRITIC CELLS FOR MELANOMA
    Jeffrey Weber; Fiscal Year: 2003
    ....
  35. CTLA-4 Inhibition and Autoimmunity in Melanoma
    Jeffrey Weber; Fiscal Year: 2008
    ..abstract_text> ..
  36. GENE ENVIRONMENT INTERACTIONS IN SCHIZOPHRENIA
    Vishwajit Nimgaonkar; Fiscal Year: 2002
    ..risk factors for schizophrenia Initially, it is proposed to test-I association of schizophrenia with the HLA DQB1 locus using family based studies...
  37. NEW GENETIC MARKERS FOR INSULIN-DEPENDENT DIABETES
    MICHAEL SHEEHY; Fiscal Year: 1990
    ..4. Determine if the degree of sharing of TCR alleles, by affected sibs, is (a) DR-identical versus 1 or 0 DR alleles shared. (b) Sharing or not sharing DR4...
  38. REG. OF T CELL AUTOREACTIVITY IN IDDM BY CTLA-4/CD152
    Jon Piganelli; Fiscal Year: 2001
    ..These studies will allow us to determine how a breakdown in peripheral tolerance due to defective function of CTLA-4 contributes to the autoimmune environment that results in IDDM. ..
  39. SCHIZOPHRENIA--GENETIC ASSOCIATIONS IN AFRICAN-AMERICANS
    Vishwajit Nimgaonkar; Fiscal Year: 1999
    ..i) a positive association at the dopamine D3 receptor gene (D3RG) locus, (ii) a negative association at the HLA DQB1 gene locus...
  40. FUNCTIONAL T CELL RECEPTOR GAMMA DELTA CELLS & GENES
    CHRISTINA PARKER; Fiscal Year: 1993
    ..The TCR gamma delta receptors from such patients will be characterized at the protein and gene level...
  41. The function of membrane vesiculation in CTLA-4-mediate*
    Joonsoo Kang; Fiscal Year: 2005
    ..To date there has been limited advancement on the ability to increase CTLA-4 function. The proposed model of CTLA-4 function would provide a novel means to increase CTLA-4-mediated inhibition in vivo. ..
  42. MODULATION OF A DIABETES GENE BY VIRAL TRANSACTIVATION
    Gerald Nepom; Fiscal Year: 2001
    ..activators on the tissue specific expression of the DQB1 allele? - What are the functional consequences of the influence of adenoviral E1a expression and resulting modulation of DQB1 expression on T-cell activation in vitro? ..
  43. INDO/US COLLABORATION IN SCHIZOPHRENIA GENETICS
    Vishwajit Nimgaonkar; Fiscal Year: 1999
    ..Using case-control studies, variation at two loci (HLA DQB1 and the dopamine D3 receptor, DRD3), have been associated previously with susceptibility to schizophrenia...
  44. OPTIMIZING BMT FOR CANCER BY GENETIC MATCHING OF DONORS
    Effie Petersdorf; Fiscal Year: 2003
    ....
  45. SNPs in Lung Cancer Risk and Therapeutic Response
    Effie Petersdorf; Fiscal Year: 2004
    ..abstract_text> ..
  46. Inflammation Pathways in Breast Cancer
    Margaret M Madeleine; Fiscal Year: 2010
    ..Cytokine genes are expressed at different levels in older compared to younger women;therefore, we will also evaluate their contribution to breast cancer risk by levels of common exposures such as obesity and HRT use. ..
  47. Genetic Epidemiology of Adult Brain Cancer: A Follow-up Study
    Jianming Tang; Fiscal Year: 2008
    ..abstract_text> ..
  48. Hepatitis B treatment and HIV Infection in resources limited settings
    Chloe L Thio; Fiscal Year: 2010
    ..This proposal has a high likelihood for success given the investigative team's experience, the randomized clinical trial design, and the nesting in an existing study. ..
  49. Liver Disease and HIV-HBV Coinfection in the HAART era
    Chloe Thio; Fiscal Year: 2008
    ..Given the experience of the investigative team and the well-characterized cohorts involved, the results from this proposal will yield insights into the management of HIV-HBV co-infected patients. ..
  50. Chlamydia trachomatis and Cervical Cancer
    MARGARET MADELEINE; Fiscal Year: 2003
    ..trachomatis may become a higher public health priority. Furthermore, our results would help determine whether further follow up of the C. trachomatis and cervical cancer association is warranted in a more expensive, prospective setting. ..
  51. HLA-DP SEQUENCE POLYMORPHISM AND DISEASE PREDISPOSITION
    Henry Erlich; Fiscal Year: 2003
    ..This method will be applied to HPV-infected cervical samples and an in vitro system with GAD peptide stimulation to study the HLA associations with cervical cancer and type 1 diabetes. ..
  52. Identification of Measles Class II-Restricted Peptides
    INNA OVSYANNIKOVA; Fiscal Year: 2003
    ..The basis from which this proposal will build on is outlined in the background, significance, and preliminary data sections below. ..
  53. Hypocretin System Immune Diathesis in Human Narcolepsy
    John Black; Fiscal Year: 2004
    ..The cause of human narcolepsy is unknown. Human narcolepsy is associated with HLA DQB1*0602, is rarely familial, and has been associated with a mutation in only one case to date...
  54. CHEMOIMMUNOTHERAPY FOR BREAST CANCER TREATMENT
    Leisha Emens; Fiscal Year: 2006
    ..abstract_text> ..
  55. DNA Methylation as an Epigenetic Host Factor in HIV/AIDS
    Jianming Tang; Fiscal Year: 2006
    ..abstract_text> ..
  56. Exposure to Immunosuppressive Drugs & Cancer Risk in SLE
    Rosalind Ramsey Goldman; Fiscal Year: 2005
    ..If certain ISDs are linked to cancer risk, prescribing patterns may change. This study may also provide new information about potential links between cancer and autoimmunity. ..
  57. DQB1*0602 RELATIVES--MECHANISMS FOR DIABETES PROTECTION
    Carla Greenbaum; Fiscal Year: 2001
    ..This proposal includes collaborative agreements between the University of Washington and the Universities of Florida (Gainesville), South Florida (Tampa), and Colorado. ..
  58. International Congress of the Immunology of Diabetes Soc
    George Eisenbarth; Fiscal Year: 2002
    ..Travel grants for young investigators will be chosen by numerical rating of submitted abstracts and additional travel funding will be applied to plenary lectures chosen by the international organizing committee. ..
  59. PHARMACOLOGY OF CYCLOSPORINE BASED IMMUNOSUPPRESSION
    Barry Kahan; Fiscal Year: 2004
    ....
  60. Admixture Mapping of Sarcoidosis Genes in African American
    Benjamin Rybicki; Fiscal Year: 2007
    ..Our proposed study has the potential to uncover genes of modest effect not easily detectable by linkage and may in some instances actually be more statistically powerful than traditional case-control association methods. ..
  61. CUTANEOUS ONCOLOGY
    Madeleine Duvic; Fiscal Year: 2004
    ..Young physicians and students who receive advanced training in the proper detection, prevention, and treatment of skin cancers will be a resource and may improve outcomes for patients of the future. ..
  62. CTLA-4 BLOCKADE IMMUNOTHERAPY FOR PROSTATE CANCER
    Eugene Kwon; Fiscal Year: 2002
    ..abstract_text> ..
  63. Development of tumor based antigen presenting cells
    James Riley; Fiscal Year: 2008
    ..Furthermore, these studies will provide the foundation for conducting a clinical trial. ..
  64. Gamma-Delta T cells and Cryptosporidiosis
    Beth Kirkpatrick; Fiscal Year: 2008
    ..These data will advance our understanding of the mucosal immune response to cryptosporidiosis, which will lead to further advances in prevention and therapy. ..
  65. Dendritics Cell Immunotherapy for Colorectal Cancer
    Lawrence Fong; Fiscal Year: 2008
    ..The proposed studies will provide the foundation for a more potent DC targeted cancer immunotherapy for the future. [unreadable] [unreadable] [unreadable]..
  66. Topical Antibiotics to Prevent Lyme Disease
    Gary Wormser; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  67. The role of copy number variants (CNV) in type 1 diabetes
    Stephen Rich; Fiscal Year: 2009
    ..Identification of genetic risk factors for T1D is the first step in risk prediction, intervention and developing disease therapeutics (prevention). ..
  68. Regulation of the Immune Response to Prostate Cancer
    Charles Drake; Fiscal Year: 2007
    ..Finally, the research and training program outlined in this proposal makes full use of the collaborative and educational opportunities offered by the Johns Hopkins Oncology Center, where this work will be performed. ..
  69. Maternal Microchimerism in Renal Disease
    Anne Stevens; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  70. Immunogenetic Studies of Autoimmune Disease
    Lisa Barcellos; Fiscal Year: 2008
    ..The results obtained from this study will provide a strong and much needed foundation for future molecular studies of MC and maternal-fetal relationships in autoimmunity. ..
  71. Chicago Childhood Diabetes Registry
    Rebecca Lipton; Fiscal Year: 2007
    ..Ultimately, this approach will permit a truly population-based molecular epidemiologic study of early-onset diabetes in families from a range of ethnic groups. ..