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Genomes and Genes
| HLA-DQB1SummaryGene 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 DQ beta, 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, MHC class2 antigen, lymphocyte antigen Species: human Top Publications
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Publications
Endocytosis of endogenously synthesized HIV-1 envelope protein. Mechanism and role in processing for association with class II MHCJ F Rowell
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J Immunol 155:473-88. 1995....
Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian familiesM 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...
HLA-DPB1 associations differ between DRB1*03 positive anti-Jo-1 and anti-PM-Scl antibody positive idiopathic inflammatory myopathyHector 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...
HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlapL 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...
Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-BS 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...
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 sleepinessSeung Chul Hong
Department of Neuropsychiatry, St Vincent s Hospital, Catholic University of Korea, Suwon, Korea
Sleep 29:1429-38. 2006....
Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controlsLiene 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...
In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtypeHector Chinoy
Rheumatic Diseases Centre, Hope Hospital, Salford, UK
Arthritis Res Ther 8:R13. 2006..In conclusion, these findings support the notion that myositis patients with differing myositis serology have different immunogenetic profiles, and that these profiles may define specific myositis subtypes...
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 patientsElisabet Agardh
Department of Ophthalmology, University Hospital MAS, SE 205 02 Malmo, Sweden
J Diabetes Complications 18:32-6. 2004....
HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitusA 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...
TNFa microsatellite polymorphism modulates the risk of type 1 diabetes in the Belgian population, independent of HLA-DQFolefac Aminkeng
Diabetes Research Center, Molecular Diagnosis Unit, Vrije Universiteit Brussel, Brussels, Belgium
Hum Immunol 68:690-7. 2007....
Reciprocal modulation of transcriptional activities between HIV-1 Tat and MHC class II transactivator CIITAH 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...
Fetal growth is increased by maternal type 1 diabetes and HLA DR4-related gene interactionsM 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...
Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groupsE Mignot
Center for Narcolepsy, Stanford University, Department of Psychiatry and Behavioral Sciences, Palo Alto, CA 94304, USA
Am J Hum Genet 68:686-99. 2001..Together with the recent hypocretin discoveries, these findings are consistent with an immunologically mediated destruction of hypocretin-containing cells in human narcolepsy-cataplexy...
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 subjectsJan 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...
Human leukocyte antigen class I and class II allele frequencies and HIV-1 infection associations in a Chinese cohortShu 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...
HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac diseaseJ 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...
Human leukocyte antigen non-class II determinants for type 1 diabetes in the Finnish populationZsofia 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...
Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians: ethnogeographic influences in the genetics and clinical expression of myositisEjaz A Shamim
Center for Biologics Evaluation and Research, FDA, Bethesda, Maryland, USA
Arthritis Rheum 46:1885-93. 2002....
Temporal trends of HLA genotype frequencies of type 1 diabetes patients in Sweden from 1986 to 2005 suggest altered riskSabina 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...
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 genotypesKati 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...
HLA genotyping in the international Type 1 Diabetes Genetics ConsortiumJosyf C Mychaleckyj
Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA
Clin Trials 7:S75-87. 2010....
HLA-Class II in Latin American patients with type 1 diabetesAdriana 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...
Type 1 diabetes patients born to immigrants to Sweden increase their native diabetes risk and differ from Swedish patients in HLA types and islet autoantibodiesAhmed 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...
Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetesTaylor 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...
HLA class I and genetic susceptibility to type 1 diabetes: results from the Type 1 Diabetes Genetics ConsortiumJanelle 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...
Autoimmune type 1 diabetes genetic susceptibility encoded by human leukocyte antigen DRB1 and DQB1 genes in TunisiaMouna Stayoussef
Research Unit of Hematological and Autoimmune Diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia
Clin Vaccine Immunol 16:1146-50. 2009....
The type 1 diabetes protective HLA DQB1*0602 allele is less frequent in gestational diabetes mellitusA 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...
Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complexM 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...
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosisLisa F Barcellos
Division of Epidemiology, School of Public Health, University of California, Berkeley 94720, USA, and Department of Clinical Neurosciences, University of Cambridge, Addenbrooke s Hospital, UK
Hum Mol Genet 15:2813-24. 2006....
Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetesK 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...
Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsyChristian Siebold
Division of Structural Biology, The Henry Wellcome Building for Genomic Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
Proc Natl Acad Sci U S A 101:1999-2004. 2004..In narcolepsy, the volume of the P4 pocket appears central to the susceptibility, suggesting that the presentation of a specific peptide population plays a major role...
HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical and autoantibody subsetsMauro Galeazzi
Istituto di Reumatologia, , Siena, Italy
Medicine (Baltimore) 81:169-78. 2002
Screening of coeliac disease in north Italian children with type 1 diabetes: limited usefulness of HLA-DQ typingG 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...
HLA polymorphism in the Murcia population (Spain): in the cradle of the archaeologic IberiansM 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...
Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean populationK W Lee
Hallym Institution for Genome Application, Hallym University, Sacred Heart Hospital, 896 Pyungchon Dong, Dongan Ku, Anyang, Kyungki Do 431 070, Korea
Tissue Antigens 65:437-47. 2005..Information obtained in this study will be useful for medical and forensic applications as well as in anthropology...
Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4Elena 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...
HLA-DQ polymorphisms modify the risk of thyroid autoimmunity in children with type 1 diabetes mellitusZ 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...
Human leukocyte antigen class I and II alleles and risk of cervical neoplasia: results from a population-based study in Costa RicaS 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...
Molecular genetic analysis of HLA-DR and -DQ alleles in Spanish patients with melanomaE Nagore
Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain
Acta Derm Venereol 82:90-3. 2002..Our results indicate that HLA class II alleles may not contribute to a strong susceptibility to melanoma in the Spanish population, although further studies on larger series are needed to corroborate this. Key words:..
Macrophages from high-risk HLA-DQB1*0201/*0302 type 1 diabetes mellitus patients are hypersensitive to lipopolysaccharide stimulationA 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 ..
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....
Molecular basis of predisposition to develop type 1 diabetes mellitus in North IndiansR 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...
The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region aloneMaria 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...
HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac DiseaseKati Karell
Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Helsinki, Finland
Hum Immunol 64:469-77. 2003..These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease, and the extreme rarity of celiac patients carrying neither the DQ2 or DQ8 heterodimers nor one half of the DQ2 heterodimer alone...
Asian-specific HLA haplotypes reveal heterogeneity of the contribution of HLA-DR and -DQ haplotypes to susceptibility to type 1 diabetesYumiko Kawabata
Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Osaka, Japan
Diabetes 51:545-51. 2002....
Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetesR Hermann
JDRF Centre for Prevention of Type 1 Diabetes in Finland, Turku, Finland
Diabetologia 49:1198-208. 2006..We also explored the heterogeneity in the disease-predisposing effect of this polymorphism in relation to known disease loci, sex and age at disease onset...
The nonpolymorphic MHC class II isotype, HLA-DQA2, is expressed on the surface of B lymphoblastoid cellsG 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...
Influence of host genetic variation on rubella-specific T cell cytokine responses following rubella vaccinationInna G Ovsyannikova
Mayo Vaccine Research Group, Mayo Clinic, Rochester, MN 55905, USA
Vaccine 27:3359-66. 2009....
Frequencies of genetic polymorphisms of TLR4 and CD14 and of HLA-DQ genotypes in children with celiac disease, type 1 diabetes mellitus, or bothA Dezsofi
First Department of Pediatrics, Semmelweis University, Hungary
J Pediatr Gastroenterol Nutr 47:283-7. 2008....
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....
Human leukocyte antigen class II associations with hepatitis C virus clearance and virus-specific CD4 T cell response among Caucasians and African AmericansRebecca A Harris
Division of Gastroenterology, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19014, USA
Hepatology 48:70-9. 2008..005; DQB1*03-DRB3*02: OR, 13.5, P = 0.001) but not among African American patients. Furthermore, although HLA DQB1*03, DRB1*11, and DRB3*02 genotypes were associated with increased HCV-specific CD4 T cell response in univariate ..
HLA class I (A, B, C) and class II (DRB1, DQA1, DQB1, DPB1) alleles and haplotypes in the Han from southern ChinaE Trachtenberg
Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
Tissue Antigens 70:455-63. 2007....
An association analysis of the HLA gene region in latent autoimmune diabetes in adultsM 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...
Reduced frequency of HLA DRB1*03-DQB1*02 in children with type 1 diabetes associated with enterovirus RNAMaria 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...
Possible human leukocyte antigen-mediated genetic interaction between type 1 and type 2 DiabetesH 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...
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 genotypeL C Stene
Division of Epidemiology, Norwegian Institute of Public Health, P O Box 4404, Nydalen, NO 0403, Oslo, Norway
Diabetologia 49:2068-73. 2006....
HLA class I and class II allele and haplotype diversity in MartinicansO Bera
Laboratoire de Virologie Immunologie, CHU de Fort de France, Martinique
Tissue Antigens 57:200-7. 2001....
Combination of HLA-A24, -DQA1*03, and -DR9 contributes to acute-onset and early complete beta-cell destruction in type 1 diabetes: longitudinal study of residual beta-cell functionKoji Nakanishi
Department of Endocrinology and Metabolism, Toranomon Hospital, 2 2 2 Toranomon, Minato ku, Tokyo 105 8470, Japan
Diabetes 55:1862-8. 2006....
Human leukocyte antigen-DR15, low infant sibling exposure and multiple sclerosis: gene-environment interactionIngrid A F van der Mei
Menzies Research Institute, University of Tasmania, Hobart, Tasmania, Australia
Ann Neurol 67:261-5. 2010..This suggests that immune mechanisms involving HLA class II molecules are susceptible to modulation in early life. Ann Neurol 2009;66:261-265 ANN NEUROL 2010;67:259-263...
HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with disease progression and disease susceptibilityP 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...
A screening system for detecting genetic risk markers of type 1 diabetes in dried blood spotsPaul 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...
Intronic sequence motifs of HLA-DQB1 are shared between humans, apes and Old World monkeys, but a retroviral LTR element (DQLTR3) is human specificH Donner
Center of Internal Medicine, Medical Department I, University Hospital, Frankfurt Main, Germany
Tissue Antigens 53:551-8. 1999..Therefore the analysis of retroviral elements as well as intronic sequences of MHC-DQB1 could help to clarify the evolution of this gene region as well the phylogenic relationship between humans, apes and Old World monkeys...
The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomniasEmmanuel Mignot
Center for Narcolepsy, Stanford University, 701B Lower Welch Rd, Palo Alto, CA 94304 5742, USA
Arch Neurol 59:1553-62. 2002..Narcolepsy, a neurological disorder affecting 1 in 2000 individuals, is associated with HLA-DQB1*0602 and low cerebrospinal fluid (CSF) hypocretin (orexin) levels...
Definition of HLA-DQ as a transplantation antigenE W Petersdorf
Division of Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, WA 98104, USA
Proc Natl Acad Sci U S A 93:15358-63. 1996..6 (1.2, 2.2; P = 0.003). These results provide evidence that HLA-DQ is a transplant antigen and suggest that evaluation of both HLA-DQB1 and HLA-DRB1 is necessary in selecting potential donors...
Assessment of the non-HLA-DR-DQ contribution to IDDM1 in British Caucasian families: analysis of LMP7 polymorphismsC L McTernan
Department of Medicine, Birmingham University, UK
Diabet Med 17:661-6. 2000Whilst HLA-DRB1 and HLA-DQ alleles contribute to IDDM1, the major determinant of genetic susceptibility to Type 1 diabetes mellitus, other major histocompatibility complex (MHC)-encoded genes may also be involved...
HLA class II distribution in Congolese with hyperthyroidism: preliminary resultsM Bidingija
Service d endocrinologie, Métabolisme et Médecine Nucléaire, Cliniques Universitaires de Kinshasa, Republique Democratique du Congo
Ann Endocrinol (Paris) 67:596-603. 2006....
Mating in parents of type 1 diabetes families as a function of the HLA DR-DQ haplotypeH Kahles
Division of Endocrinology and Department of Immunohaematology, University Hospital Frankfurt, Frankfurt, Germany
Diabetes Obes Metab 11:84-7. 2009The Major Histocompatibility Complex (MHC) region on chromosome 6p21 (IDDM1) contributes about half of the familial clustering of type 1 diabetes (T1D)...
Prevalence of human leukocyte antigen DQA1 and DQB1 alleles in Kuwaiti Arab children with type 1 diabetes mellitusM Z Haider
Pediatrics Department, Faculty of Medicine, Kuwait University, Safat
Clin Genet 56:450-6. 1999..Analysis of HLA-DQBI/DQA1 haplotypes from IDDM cases and controls revealed a significantly high frequency of haplotype DQA1*0301/DQB1*0201 between Kuwaiti IDDM cases (49/78, 63%) and the controls (8/57, 14%)...
Nocturnal sleep and daytime sleepiness in normal subjects with HLA-DQB1*0602E Mignot
Stanford University, Department of Psychiatry and Behavioral Sciences, CA 94305-5485, USA
Sleep 22:347-52. 1999..These results support the hypothesis that polymorphisms at the level of HLA DQ modulates sleep tendencies in humans...
DQB1-0602 (DQw1) is not present in most nonDR2 Caucasian narcolepticsE Mignot
Stanford University, School of Medicine, Sleep Disorders Center, Palo Alto, California 94304
Sleep 15:415-22. 1992..About 30% of black narcoleptic patients are nonDR2, but all carry the HLA DQB1-0602 gene...
Analysis and frequency of bovine lymphocyte antigen (BoLA-DRB3) alleles in Iranian Holstein cattleM R Nassiry
Center of Excellence in Animal Science, College ofAgriculture, Ferdowsi University of Mashhad, Mashhad 91775 1163, Iran
Genetika 41:817-22. 2005The bovine lymphocyte antigen (BoLA-DRB3) gene encodes cell surface glycoproteins that initiate immune response by presenting processed antigenic peptides to CD4 T helper cells...
[Alleles of HLA-DQB1 and familial aggregation of type 1 diabetes]Izabela Kubryn
Klinika Chorob Dzieci, Instytut Pediatrii, Akademia Medyczna, ul Sporna 36 50, 91 738 Łódź, Poland
Med Wieku Rozwoj 7:157-64. 2003..8% vs. 19.9%; Pc<10(-5); OR(95%CI)=0.39(0.19-0.58). The results suggest that it is likely that familial aggregation of T1DM is associated with lower frequency of protective alleles of HLA-DQB1 gene...
Population-based genetic screening for the estimation of Type 1 diabetes mellitus risk in Finland: selective genotyping of markers in the HLA-DQB1, HLA-DQA1 and HLA-DRB1 lociS Nejentsev
Turku Immunology Centre and Department of Virology, University of Turku, Finland
Diabet Med 16:985-92. 1999..To improve sensitivity and specificity of the diabetes risk assessment of the population-based genetic screening used in the Finnish Diabetes Prediction and Prevention (DIPP) trial...
Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA)Mariela Caputo
Laboratory of Molecular Biology, Department of Genetic and Molecular Biology, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina
Autoimmunity 38:277-81. 2005..Several other genetic loci are needed to develop autoimmune diabetes in adult patients. Therefore, LADA may be the result of a combined minor risk loci effect in a major risk haplotype...
Genetic similarities between latent autoimmune diabetes in adults, type 1 diabetes, and type 2 diabetesCamilla Cervin
Department of Clinical Sciences Diabetes and Endocrinology, Clinical Research Center, Malmo University Hospital, Lund University, S 205 02 Malmo, Sweden
Diabetes 57:1433-7. 2008..One way to improve classification is to study whether LADA shares genetic features with type 1 and/or type 2 diabetes...
HLA-identical sibling renal transplantation--a 21-yr single-center experienceA M de Mattos
Laboratory of Immunogenetics, Oregon Health Sciences University, Portland 97201, USA
Clin Transplant 13:158-67. 1999Human lymphocyte antigen (HLA)-identical sibling organs offer the best long-term outcomes for recipients of a renal transplant apart from an identical twin...
Procedure for preparing peptide-major histocompatibility complex tetramers for direct quantification of antigen-specific cytotoxic T lymphocytesXian hui He
Key Laboratory of Ministry of Education of China for Tissue Transplantation and Immunology, Jinan University, Guangzhou 510632, Guangdong Province, China
World J Gastroenterol 11:4180-7. 2005..To establish a simplified method for generating peptide-major histocompatibility complex (MHC) class I tetramers...
HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patientsE Mignot
Stanford Center for Narcolepsy, Palo Alto, CA 94301, USA
Sleep 20:1012-20. 1997..Subjects with definite cataplexy as observed by an experienced clinician were more frequently HLA DQB1*0602-positive than those with doubtful cataplexy, and the manifestations of cataplexy were clinically more ..
Induction of cytotoxic T-lymphocyte antigen-2beta, a cysteine protease inhibitor in decidua: a potential regulator of embryo implantationYong Pil Cheon
Department of Veterinary Biosciences, University of Illinois, Urbana Champaign, Urbana, Illinois 61802, USA
J Biol Chem 279:10357-63. 2004..Our study revealed that the gene encoding cytotoxic T-lymphocyte antigen-2beta (CTLA-2beta), a cysteine protease inhibitor, is expressed during PR-induced decidualization...
Cutaneous lymphocyte antigen expression in benign and neoplastic cutaneous B- and T-cell lymphoid infiltratesCynthia M Magro
Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065, USA
J Cutan Pathol 35:1040-9. 2008..It has been postulated to be an important factor in homing of lymphocytes to the skin because of its function as a ligand for E-selectin expressed on cutaneous endothelial cells...
Therapeutic effects of antibodies to tumor necrosis factor-alpha, interleukin-6 and cytotoxic T-lymphocyte antigen 4 immunoglobulin in mice with glucose-6-phosphate isomerase induced arthritisIsao Matsumoto
Division of Clinical Immunology, Major of Advanced Biomedical Applications, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai, Tsukuba 305 8575, Japan
Arthritis Res Ther 10:R66. 2008..Immunization with glucose-6-phosphate isomerase (GPI) induces severe arthritis in DBA/1 mice. The present study was designed to identify the cytokines and co-stimulatory molecules involved in the development of GPI-induced arthritis...
IgG abnormality in narcolepsy and idiopathic hypersomniaSusumu Tanaka
Research on the Cause and Treatment of Sleep Disorders, Tokyo Institute of Psychiatry, Tokyo, Japan
PLoS ONE 5:e9555. 2010..A close association between narcolepsy and the Human Leukocyte Antigen (HLA)-DQB1*0602 allele suggests the involvement of the immune system, or possibly an autoimmune process. We investigated serum IgG levels in narcolepsy...
B lymphocyte antigen D8/17: a peripheral marker for childhood-onset obsessive-compulsive disorder and Tourette's syndrome?T K Murphy
Department of Psychiatry, University of Florida College of Medicine, USA
Am J Psychiatry 154:402-7. 1997..Monoclonal antibody D8/17 identifies a B lymphocyte antigen with expanded expression in nearly all patients with rheumatic fever and is thought to be a trait marker for ..
A study of T CD4, CD8 and B lymphocytes in narcoleptic patientsFernando Morgadinho Santos Coelho
Sleep Disorders Institute, EPM, UNIFESP, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 65:423-7. 2007..Narcolepsy is characterized by excessive daytime sleep and cataplexy. Little is known about the possible difference in pathophysiology between patients with or without cataplexy...
Different distribution of HLA class II alleles in anti-topoisomerase I autoantibody responders between silicosis and systemic sclerosis patients, with a common distinct amino acid sequence in the HLA-DQB1 domainA Ueki
Department of Hygiene, Kawasaki Medical School, Kurashiki, Japan
Immunobiology 204:458-65. 2001..The above-mentioned amino acid sequence is detected in alleles *0301, *0303, *0306, *0401, *0402, *0601 and *0602...
Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidismR Goswami
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India
Int J Immunogenet 32:393-400. 2005..been linked with +49A/G and CT60 single nucleotide polymorphisms (SNPs) in the 3' UTR of the cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene. Both these SNPs are functionally relevant and linked with T-lymphocyte activation...
Constant, but not pulsed calcitriol suppresses hemodialysis patients' antigen-induced lymphocyte proliferationP M Hannula
Department of Medicine, Tampere University Hospital, Tampere, Finland
Nephron 86:139-44. 2000..We studied the effect of in vitro constant and intermittent 1, 25-(OH)(2)D(3) on lymphocyte antigen response of hemodialysis patients.
Expression mapping of cytotoxic T-lymphocyte antigen-2alpha gene transcripts in mouse brainClaudius Luziga
Laboratory of Biochemistry and Radiation Biology, Department of Veterinary Sciences, Faculty of Agriculture, Yamaguchi University, Yamaguchi, 753 8515, Japan
Histochem Cell Biol 127:569-79. 2007Cytotoxic T-lymphocyte antigen-2alpha (CTLA-2alpha), an inhibitor peptide homologous to the proregion of mouse cathepsin L, was originally discovered and expressed in mouse-activated T-cells and mast cells...
HLA associations with HBV carriage and proteinuriaRajendra Bhimma
Department of Paediatrics and Child Health, Nelson R Mandela School of Medicine, University of Natal, Private Bag 7, Congella, 4013, South Africa
Pediatr Nephrol 17:724-9. 2002..In a previous study, we found an association with HLA DQB1*0603 in black children with HBVMN...
Validation of the ICSD-2 criteria for CSF hypocretin-1 measurements in the diagnosis of narcolepsy in the Danish populationStine Knudsen
Danish Center for Sleep Medicine, University of Copenhagen, Glostrup Hospital, Glostrup, Denmark
Sleep 33:169-76. 2010....
The major histocompatibility complex gene region and sarcoidosis susceptibility in African AmericansBenjamin A Rybicki
Department of Biostatistics and Research Epidemiology and Division of Pulmonary and Critical Care Medicine, Henry Ford Health System, Detroit, Michigan 48202, USA
Am J Respir Crit Care Med 167:444-9. 2003....
+49A/G polymorphism of cytotoxic T-lymphocyte antigen 4 gene in type 1 autoimmune hepatitis and primary biliary cirrhosis: A meta-analysisYasuhiro Miyake
Departments of Molecular Hepatology and Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan
Hepatol Res 41:151-9. 2011Aim: Recently, the associations of +49A/G polymorphisms of cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene with the susceptibility to type 1 autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) have been reported; however ..
Association between DQB1 and cervical cancer in patients with human papillomavirus and family controlsR J Neuman
Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, USA
Obstet Gynecol 95:134-40. 2000..To overcome problems of misleading causal inferences common in traditional case-control studies, a family-based test, the transmission/disequilibrium test, was used...
Donor catecholamine use reduces acute allograft rejection and improves graft survival after cadaveric renal transplantationP Schnuelle
Fifth Medical Clinic Nephrology, Endocrinology, University Hospital Mannheim, Germany
Kidney Int 56:738-46. 1999..donors result in superior survival rates as compared with cadaveric grafts, despite a higher degree of human lymphocyte antigen (HLA) mismatching...
Diabetes-prone and diabetes-resistant BB rats share a common major diabetes susceptibility locus, iddm4: additional evidence for a "universal autoimmunity locus" on rat chromosome 4A M Martin
Department of Microbiology and Immunology, Medical College of Pennsylvania Hahnemann University, Philadelphia, USA
Diabetes 48:2138-44. 1999..Spontaneous disease also requires homozygosity for lyp/iddm1, which causes lymphopenia...
Association of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with type 1 autoimmune hepatitis in JapaneseTakeji Umemura
Department of Internal Medicine, Divisions of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, Japan
Hepatol Res 38:689-95. 2008..The cytotoxic T-lymphocyte antigen 4 (CTLA4) is an inhibitory receptor expressed by T-cells that acts largely as a negative regulator of T-cell ..
Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosisBrian D Juran
Center for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Hepatology 47:563-70. 2008..Cytotoxic T-lymphocyte antigen 4 (CTLA4) and programmed cell-death 1 (PDCD1) are two genes encoding coinhibitory immunoreceptors that ..
MX2 gene expression tends to be downregulated in subjects with HLA-DQB1*0602Susumu Tanaka
Sleep Disorders Project, Department of Sleep Disorders Research, Tokyo Institute of Psychiatry, Setagaya Ku, Tokyo, Japan
Sleep 31:749-51. 2008..In this study, we examined the possibility of an association between MX2 expression and HLA haplotypes...
Mucous membrane pemphigoid: HLA-DQB1*0301 is associated with all clinical sites of involvement and may be linked to antibasement membrane IgG productionJ Setterfield
St John s Institute of Dermatology GKT, St Thomas Hospital, Lambeth Palace Road, London SE1 7EH, UK
Br J Dermatol 145:406-14. 2001..Class I human leucocyte antigens (HLA) -A, -B, -Cw and class II HLA-DRB1, -DQB1 alleles were determined in 131 British Caucasian patients with mucous membrane pemphigoid (MMP) using serological and DNA-based methods...
IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunityM Walter
Diabetes Research Institute, Munich Schwabing Hospital, Kolner Platz 1, 80804 Munich, Germany
Diabetologia 46:712-20. 2003..The aim of this study was to determine whether combining IDDM1/HLA and IDDM2/ insulin( INS) 5' variable number of tandem repeat locus (VNTR) genotypes improves T1D risk ..
Research Grants
- Dengue Epitope Vaccine,Tetravalent & MHCII-TargetedJ Thomas August; Fiscal Year: 2007..selected for binding to clusters of major histocompatability class (MHC) motifs representing multiple human lymphocyte antigen (HLA) alleles (promiscuous epitopes) and effective with each of the four dengue serotypes (pan-dengue ..
- SKIN HOMING T CELLS--MOLECULAR CHARACTERIZATION OF CLAThomas Kupper; Fiscal Year: 2001..A subset of memory T cells bear a marker called cutaneous lymphocyte antigen (CLA) recognized by a unique monoclonal antibody HECA-452...
- TYROSINE PROTEIN KINASES AND LYMPHOCYTE ACTIVATIONROBERT GEAHLEN; Fiscal Year: 1993..a novel protein-tyrosine kinase, PTK72, which is part of a signal transduction complex associated with the B lymphocyte antigen receptor...
- SKIN HOMING T CELLS--MOLECULAR CHARACTERIZATION OF CLAThomas Kupper; Fiscal Year: 2006..g., lung, gut). These markers include Cutaneous Lymphocyte antigen (CLA, a ligand for E and P selectin which we characterized extensively in the first cycle of funding), the ..
- Anti-CTLA-4 Monoclonal Antibody Therapy for LymphomaJohn Timmerman; Fiscal Year: 2005..T cell hyporesponsiveness towards tumors is blockade of the negative T cell regulatory molecule cytotoxic T lymphocyte antigen 4 (CTLA-4)...
- Degeneracy and Complexity in the Immune SystemEli Sercarz; Fiscal Year: 2006..Actually, most of the crucial receptor elements in the immune system, aside from lymphocyte antigen receptors, are degenerate to a great extent, e.g...
- Skin Homing T Cells -- Molecular Characterization of CLAThomas S Kupper; Fiscal Year: 2010..two funding cycles of this grant, we have characterized the molecular structure and function of Cutaneous Lymphocyte Antigen or CLA...
- ATM FUNCTION DURING V(D)J RECOMBINATIONBARRY SLECKMAN; Fiscal Year: 2009..We have shown that ATM is also involved in the repair of RAG-mediated DSBs generated during lymphocyte antigen receptor gene assembly...
- ATM FUNCTION DURING V(D)J RECOMBINATIONBarry P Sleckman; Fiscal Year: 2010..We have shown that ATM is also involved in the repair of RAG-mediated DSBs generated during lymphocyte antigen receptor gene assembly...
- ATM FUNCTION DURING V(D)J RECOMBINATIONBarry P Sleckman; Fiscal Year: 2011..We have shown that ATM is also involved in the repair of RAG-mediated DSBs generated during lymphocyte antigen receptor gene assembly...
- ATM FUNCTION DURING V(D)J RECOMBINATIONBARRY SLECKMAN; Fiscal Year: 2009..We have shown that ATM is also involved in the repair of RAG-mediated DSBs generated during lymphocyte antigen receptor gene assembly...
- GENETIC FACTORS AND SUSCEPTIBILITY TO TUBERCULOSISAnne Goldfeld; Fiscal Year: 2001..This aim will investigate whether there is an HLA association with anergy or lack of DTH, and will characterize the cytokine profiles and T cell proliferative responses in anergic pulmonary tuberculosis patients. ..
- SPONTANEOUS REGRESSION BIOMARKERS IN CERVIX DYSPLASIAGloria 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...
- SIGNAL TRANSDUCTION IN B CELL ACTIVATIONJohn Cambier; Fiscal Year: 2000B lymphocyte antigen receptors, membrane immunoglobulins (mIg), function in transduction of information across the plasma membrane leading to altered gene expression and cell activation, and in focussing and internalization of antigen for ..
- REGULATION OF TCRB CHAIN GENE REARRANGEMENTBARRY SLECKMAN; Fiscal Year: 2004DESCRIPTION (Adapted from the Investigator's abstract): Lymphocyte antigen receptor genes are assembled by a site-specific recombination process, referred to as V(D)J recombination, which is tightly regulated within the context of ..
- Developmental and genomic studies on the agnatha VLR systemChris Amemiya; Fiscal Year: 2007..A lymphocyte antigen receptor system capable of generating enormous diversity via somatic rearrangement has recently been ..
