Peter Gregersen

Summary

Affiliation: North Shore University Hospital
Country: USA

Publications

  1. doi request reprint The Genotype and Phenotype (GaP) registry: a living biobank for the analysis of quantitative traits
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA
    Immunol Res 63:107-12. 2015
  2. pmc REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
    Peter K Gregersen
    The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, NY, USA
    Nat Genet 41:820-3. 2009
  3. doi request reprint FOXO in the hole: leveraging GWAS for outcome and function
    Peter K Gregersen
    The Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA Electronic address
    Cell 155:11-2. 2013
  4. pmc Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
    Mark S Silverberg
    Mount Sinai Hospital Inflammatory Bowel Disease Group, University of Toronto, 600 University Avenue, Toronto, ON M5G1X5, Canada
    Nat Genet 41:216-20. 2009
  5. pmc Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, USA
    Ann Neurol 72:927-35. 2012
  6. doi request reprint GWAS implicates a role for quantitative immune traits and threshold effects in risk for human autoimmune disorders
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, United States
    Curr Opin Immunol 24:538-43. 2012
  7. pmc Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
    Saurav Guha
    Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of the North Shore Long Island Jewish Health System, 75 59, 263rd St Glen Oaks, NY 11004, USA
    Genome Biol 13:R2. 2012
  8. doi request reprint Cell type-specific eQTLs in the human immune system
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York, USA
    Nat Genet 44:478-80. 2012
  9. pmc Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data
    Christopher I Amos
    Departments of Epidemiology and Biomathematics, University of Texas, MD Anderson Cancer Center, 1155 Pressler Street, Houston, Texas 77030, USA
    BMC Proc 3:S2. 2009
  10. pmc Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits
    Christopher I Amos
    Departments of Epidemiology and Biomathematics, University of Texas, Anderson Cancer Center, 1155 Pressler Street, Unit 1340, Houston, Texas 77030, USA
    BMC Proc 1:S3. 2007

Detail Information

Publications93

  1. doi request reprint The Genotype and Phenotype (GaP) registry: a living biobank for the analysis of quantitative traits
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA
    Immunol Res 63:107-12. 2015
    ..It is likely that expansion of such living biobank registries will play an important role in studying and understanding the function of disease associated alleles in complex disease. ..
  2. pmc REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
    Peter K Gregersen
    The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, NY, USA
    Nat Genet 41:820-3. 2009
    ....
  3. doi request reprint FOXO in the hole: leveraging GWAS for outcome and function
    Peter K Gregersen
    The Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA Electronic address
    Cell 155:11-2. 2013
    ..Leveraging GWAS data, Lee et al. now identify FOXO3 activity as predictive of disease severity in Crohn's disease and rheumatoid arthritis as well as malaria, likely by acting through regulation of cytokine production in monocytes. ..
  4. pmc Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
    Mark S Silverberg
    Mount Sinai Hospital Inflammatory Bowel Disease Group, University of Toronto, 600 University Avenue, Toronto, ON M5G1X5, Canada
    Nat Genet 41:216-20. 2009
    ..0 x 10(-16), combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3 x 10(-8), combined OR = 0.56; rs10889677, combined P = 1.3 x 10(-8), combined OR = 1.29)...
  5. pmc Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, USA
    Ann Neurol 72:927-35. 2012
    ..The objective of this study is to comprehensively define the genetic basis of early onset myasthenia gravis (EOMG)...
  6. doi request reprint GWAS implicates a role for quantitative immune traits and threshold effects in risk for human autoimmune disorders
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, United States
    Curr Opin Immunol 24:538-43. 2012
    ..Future development of new therapies will depend on understanding the mechanistic underpinnings of immune regulation by these new risk loci...
  7. pmc Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
    Saurav Guha
    Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of the North Shore Long Island Jewish Health System, 75 59, 263rd St Glen Oaks, NY 11004, USA
    Genome Biol 13:R2. 2012
    ..Comparison of the genotyping data with that of neighboring European and Asian populations enabled the Ashkenazi Jewish-specific component of the variance to be characterized with respect to disease-relevant alleles and pathways...
  8. doi request reprint Cell type-specific eQTLs in the human immune system
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York, USA
    Nat Genet 44:478-80. 2012
    ..The identification of cell type-specific trans-regulated networks can inform functional studies of susceptibility loci identified from genome-wide association studies for human complex diseases...
  9. pmc Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data
    Christopher I Amos
    Departments of Epidemiology and Biomathematics, University of Texas, MD Anderson Cancer Center, 1155 Pressler Street, Houston, Texas 77030, USA
    BMC Proc 3:S2. 2009
    ..Several questions could be addressed using the data, including analysis of genetic associations using single SNPs or haplotypes, as well as gene-gene and genetic analysis of SNPs for qualitative and quantitative factors...
  10. pmc Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits
    Christopher I Amos
    Departments of Epidemiology and Biomathematics, University of Texas, Anderson Cancer Center, 1155 Pressler Street, Unit 1340, Houston, Texas 77030, USA
    BMC Proc 1:S3. 2007
    ....
  11. pmc Comparison of genome-wide single-nucleotide polymorphism linkage analyses in Caucasian and Hispanic NARAC families
    Wei V Chen
    Department of Epidemiology, Anderson Cancer Center, Houston, Texas 77030, USA
    BMC Proc 1:S97. 2007
    ..A larger sample size of the Hispanic group is needed to identify linkage regions...
  12. pmc Copy-number-variation and copy-number-alteration region detection by cumulative plots
    Wentian Li
    The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, USA
    BMC Bioinformatics 10:S67. 2009
    ..Using genotyping microarray for copy number variation detection has become standard, and there is a need for improving analysis methods...
  13. pmc Anticitrullinated protein antibody (ACPA) in rheumatoid arthritis: influence of an interaction between HLA-DRB1 shared epitope and a deletion polymorphism in glutathione S-transferase in a cross-sectional study
    Ted R Mikuls
    Omaha Veterans Affairs Medical Center and Nebraska Arthritis Outcomes Research Center, University of Nebraska Medical Center, 986270 Nebraska Medical Center, Omaha, NE 68198 6270, USA
    Arthritis Res Ther 12:R213. 2010
    ..The purpose of this study was to examine the associations of GSTM1-null with ACPA positivity in RA and to assess for evidence of interaction between GSTM1 and HLA-DRB1 shared epitope (SE)...
  14. pmc Circulating immune complexes contain citrullinated fibrinogen in rheumatoid arthritis
    Xiaoyan Zhao
    GRECC, VA Palo Alto Health Care System, Palo Alto, CA 94304, USA
    Arthritis Res Ther 10:R94. 2008
    ..There is increasing evidence that autoantibodies and immune complexes (ICs) contribute to synovitis in rheumatoid arthritis (RA), yet the autoantigens incorporated in ICs in RA remain incompletely characterised...
  15. pmc Blood autoantibody and cytokine profiles predict response to anti-tumor necrosis factor therapy in rheumatoid arthritis
    Wolfgang Hueber
    Department of Medicine, Division of Immunology and Rheumatology, Stanford University, Stanford, CA 94305, USA
    Arthritis Res Ther 11:R76. 2009
    ..Since no clinical or laboratory tests are available to predict response to anti-TNF therapies, great need exists for predictive biomarkers...
  16. ncbi request reprint Genetics of autoimmune diseases--disorders of immune homeostasis
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York 11030, USA
    Nat Rev Genet 7:917-28. 2006
    ..Recent studies have also highlighted a previously unanticipated interplay between the innate and adaptive immune system, providing a new direction for research in this field...
  17. pmc Recent advances in the genetics of autoimmune disease
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, Manhasset, New York 11030, USA
    Annu Rev Immunol 27:363-91. 2009
    ..The current review focuses on recent discoveries within functionally related groups of genes that provide clues to novel pathways of pathogenesis for human autoimmunity...
  18. ncbi request reprint PTPN22: setting thresholds for autoimmunity
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, North Shore LIJ Health System, 350 Community Drive, Manhasset, NY 11030, United States
    Semin Immunol 18:214-23. 2006
    ..From a genetic perspective, the data highlights the genetic heterogeneity underlying autoimmunity in different ethnic groups...
  19. ncbi request reprint Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Institute for Medical Research at North Shore LIJ, Manhasset, NY 11030, USA
    Immunol Rev 204:74-86. 2005
    ....
  20. pmc Genetics of rheumatoid arthritis: confronting complexity
    P K Gregersen
    Division of Biology and Human Genetics, North Shore University Hospital, Manhasset, New York 11030, USA
    Arthritis Res 1:37-44. 1999
    ..It is likely that this will involve an iterative and interactive process between several different scientific disciplines...
  21. ncbi request reprint Susceptibility genes for rheumatoid arthritis - a rapidly expanding harvest
    Peter K Gregersen
    Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, Manhasset, New York 11030, USA
    Bull NYU Hosp Jt Dis 68:179-82. 2010
    ..In addition, the rapidly advancing genetic technologies should lead to a more complete definition of the genetic underpinnings or RA in the next few years...
  22. ncbi request reprint Teasing apart the complex genetics of human autoimmunity: lessons from rheumatoid arthritis
    Peter K Gregersen
    Center for Genomics and Human Genetics, North Shore Long Island Jewish Research Institute, 350 Community Drive, Manhasset, NY 11030, USA
    Clin Immunol 107:1-9. 2003
  23. pmc The 6q22.33 locus and breast cancer susceptibility
    Tomas Kirchhoff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
    Cancer Epidemiol Biomarkers Prev 18:2468-75. 2009
    ..Further functional studies of candidate genes are in progress, and a large replication analysis is being completed as part of an international consortium...
  24. pmc Genetic variants of TSLP and asthma in an admixed urban population
    Mengling Liu
    Department of Environmental Medicine, New York University School of Medicine, New York, New York, United States of America
    PLoS ONE 6:e25099. 2011
    ..Since asthma is prevalent in urban communities, variants in the TSLP gene may be important in asthma susceptibility in these populations...
  25. pmc The architecture of long-range haplotypes shared within and across populations
    Alexander Gusev
    Department of Computer Science, Columbia University, New York, New York, USA
    Mol Biol Evol 29:473-86. 2012
    ..These are inconsistent with recent relatedness and suggest ancient common ancestry, with limited recombination between haplotypes...
  26. ncbi request reprint The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status
    A T Lee
    North Shore LIJ Research Institute, Manhasset, NY 11030, USA
    Genes Immun 6:129-33. 2005
    ..57, 95% CI 2.35-8.89). There was no evidence of a genetic association between PTPN22 and HLA susceptibility alleles...
  27. pmc A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases
    D Jawaheer
    Division of Biology and Human Genetics, North Shore University Hospital, Manhasset, NY 11030, USA
    Am J Hum Genet 68:927-36. 2001
    ..Therefore, genes in the HLA complex play a major role in RA susceptibility, but several other regions also contribute significantly to overall genetic risk...
  28. ncbi request reprint Microsatellite typing for DRB1 alleles: application to the analysis of HLA associations with rheumatoid arthritis
    H S Lee
    Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, USA
    Genes Immun 7:533-43. 2006
    ..In addition, these two alleles are both associated with rheumatoid arthritis, making the elucidation of these haplotype relationships potentially important for understanding disease susceptibility...
  29. pmc Beliefs and attitudes towards participating in genetic research - a population based cross-sectional study
    Samantha M Kerath
    Feinstein Institute for Medical Research, North Shore LongIsland Jewish Health System, 350 Community Drive, Great Neck, NY 11021, USA
    BMC Public Health 13:114. 2013
    ....
  30. pmc Frequency of CHEK2*1100delC in New York breast cancer cases and controls
    Kenneth Offit
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    BMC Med Genet 4:1. 2003
    ..While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear...
  31. ncbi request reprint A functional promoter polymorphism in the macrophage migration inhibitory factor (MIF) gene associated with disease severity in rheumatoid arthritis
    J A Baugh
    Laboratory of Medical Biochemistry, The Picower Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA
    Genes Immun 3:170-6. 2002
    ..The presence of the low expressing, 5-CATT repeat allele correlated with low disease severity in a cohort of rheumatoid arthritis patients...
  32. ncbi request reprint Chromosomal localization, genomic structure, and allelic polymorphism of the human CD79 alpha (Ig-alpha/mb-1) gene
    S Hashimoto
    Department of Medicine, North Shore University Hospital, Manhasset, NY 11030
    Immunogenetics 40:287-95. 1994
    ..Finally, a new Rsa I restriction fragment length polymorphism was defined in the non-coding regions of the human gene...
  33. ncbi request reprint The complete sequence of the human CD79b (Ig beta/B29) gene: identification of a conserved exon/intron organization, immunoglobulin-like regulatory regions, and allelic polymorphism
    S Hashimoto
    Department of Medicine, North Shore University Hospital, Manhasset, NY 11030
    Immunogenetics 40:145-9. 1994
    ..A new Taq 1 restriction fragment length polymorphism is described that is not associated with any structural polymorphisms of the expressed CD79b polypeptide...
  34. ncbi request reprint Peripheral blood gene expression profiling in rheumatoid arthritis
    F M Batliwalla
    Robert S Boas Center for Genomics and Human Genetics, North Shore Long Island Jewish Research Institute, Manhasset, NY 11030, USA
    Genes Immun 6:388-97. 2005
    ....
  35. pmc Analysis and application of European genetic substructure using 300 K SNP information
    Chao Tian
    Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America
    PLoS Genet 4:e4. 2008
    ..The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans...
  36. pmc Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
    John B Harley
    Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, Oklahoma 73104, USA
    Nat Genet 40:204-10. 2008
    ..Our results show that numerous genes, some with known immune-related functions, predispose to SLE...
  37. pmc Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
    Robert M Plenge
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 39:1477-82. 2007
    ..We show that these two SNP associations are statistically independent, are each reproducible in the comparison of our data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23...
  38. pmc Association of STAT4 with rheumatoid arthritis in the Korean population
    Hye Soon Lee
    The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York 11030, USA
    Mol Med 13:455-60. 2007
    ....
  39. pmc TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study
    Robert M Plenge
    Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA
    N Engl J Med 357:1199-209. 2007
    ..We carried out a genomewide association analysis to identify additional genetic loci associated with an increased risk of rheumatoid arthritis...
  40. pmc Cholinergic anti-inflammatory pathway activity and High Mobility Group Box-1 (HMGB1) serum levels in patients with rheumatoid arthritis
    Richard S Goldstein
    The Feinstein Institute for Medical Research, and Department of Emergency Medicine, North Shore University Hospital, Manhasset, NY 11030, USA
    Mol Med 13:210-5. 2007
    ....
  41. pmc Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis
    Henrik Kallberg
    Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
    Am J Hum Genet 80:867-75. 2007
    ..The data extend the basis for a pathogenetic hypothesis for RA involving genetic and environmental factors. The study also raises and illustrates principal questions concerning ways to define interactions in complex diseases...
  42. pmc STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus
    Elaine F Remmers
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
    N Engl J Med 357:977-86. 2007
    ..Rheumatoid arthritis is a chronic inflammatory disease with a substantial genetic component. Susceptibility to disease has been linked with a region on chromosome 2q...
  43. pmc Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus
    Hye Soon Lee
    The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, United States of America
    Mol Med 14:293-300. 2008
    ..These data emphasize that further analysis of the MHC is likely to reveal genetic risk factors for rheumatoid arthritis that are independent of the DRB1 shared epitope alleles...
  44. pmc The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis
    Monica Chang
    Celera, Alameda, CA, USA
    Arthritis Rheum 58:1877-81. 2008
  45. pmc Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus
    Kimberly E Taylor
    Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, California, USA
    PLoS Genet 4:e1000084. 2008
    ..We conclude that this common polymorphism of STAT4 contributes to the phenotypic heterogeneity of SLE, predisposing specifically to more severe disease...
  46. pmc A broad analysis of IL1 polymorphism and rheumatoid arthritis
    Alyssa K Johnsen
    Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA
    Arthritis Rheum 58:1947-57. 2008
    ..The aim of this study was to perform a broad and well-powered search for association between allelic polymorphism in IL1A and IL1B and the susceptibility to or severity of RA...
  47. pmc A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2
    Monica Chang
    Celera, Alameda, California, United States of America
    PLoS Genet 4:e1000107. 2008
    ..Lastly, in combination with the other two known genetic risk factors, HLA-DRB1 and PTPN22, the variants reported here generate more than a 45-fold RA-risk differential...
  48. pmc STAT4: genetics, mechanisms, and implications for autoimmunity
    Benjamin D Korman
    National Institute of Arthritis, Musculoskeletal, and Skin Diseases, 9 Memorial Drive, NIH Building 9, Room 1W108, Bethesda, MD 20892, USA
    Curr Allergy Asthma Rep 8:398-403. 2008
    ..In concert with the identification of other disease-associated loci, elucidating how the variant form of STAT4 modulates immune function should lead to an improved understanding of the pathophysiology of autoimmunity...
  49. pmc Common variants at CD40 and other loci confer risk of rheumatoid arthritis
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1216-23. 2008
    ..1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall)...
  50. ncbi request reprint BLM heterozygosity and the risk of colorectal cancer
    Stephen B Gruber
    Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, MI 48109, USA
    Science 297:2013. 2002
  51. ncbi request reprint Modern genetics, ancient defenses, and potential therapies
    Peter K Gregersen
    N Engl J Med 356:1263-6. 2007
  52. ncbi request reprint Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis
    Amir S Karban
    Johns Hopkins University School of Medicine, 1503 E Jefferson Street, Room B136, Baltimore, MD 21231, USA
    Hum Mol Genet 13:35-45. 2004
    ..Therefore, we have identified the first potentially functional polymorphism of NFKB1 and demonstrated its genetic association with a common human disease, ulcerative colitis...
  53. pmc Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis
    Damini Jawaheer
    Center for Genomics and Human Genetics, North Shore Long Island Jewish Research Institute, Manhasset, NY, 11030, USA
    Am J Hum Genet 71:585-94. 2002
    ....
  54. ncbi request reprint Metabolism and biochemical effects of nicotine for primary care providers
    Christine N Metz
    Laboratory of Medicinal Biochemistry, Center for Patient Oriented Research, North Shore Long Island Jewish Research Institute, 350 Community Drive, Manhasset, NY 11030, USA
    Med Clin North Am 88:1399-413, ix. 2004
    ..This article covers the absorption and metabolism of nicotine, nicotine toxicity, pharmacologic effects of nicotine, nicotine-drug interactions, and the use of nicotine for the treatment of disease...
  55. ncbi request reprint The functional -169T-->C single-nucleotide polymorphism in FCRL3 is not associated with rheumatoid arthritis in white North Americans
    Xiaolan Hu
    Celera Diagnostics, Alameda, CA
    Arthritis Rheum 54:1022-5. 2006
  56. ncbi request reprint Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles
    Patricia Irigoyen
    North Shore Long Island Jewish Institute for Medical Research, Manhasset, New York 11030, USA
    Arthritis Rheum 52:3813-8. 2005
    ..To examine the association between HLA-DRB1 alleles and the production of anti-cyclic citrullinated peptide (anti-CCP) and rheumatoid factor (RF) autoantibodies in patients with rheumatoid arthritis (RA)...
  57. ncbi request reprint Gaining insight into PTPN22 and autoimmunity
    Peter K Gregersen
    Nat Genet 37:1300-2. 2005
  58. ncbi request reprint Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins
    Tom W J Huizinga
    Department of Rheumatology C4R, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Arthritis Rheum 52:3433-8. 2005
    ..We undertook this study to make the first comparison of SE allele frequencies in the healthy population with those in RA patients who do or do not harbor anti-CCP antibodies...
  59. pmc A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
    Ann B Begovich
    Celera Diagnostics, Alameda, CA 94502, USA
    Am J Hum Genet 75:330-7. 2004
    ..The minor allele of this SNP recently was implicated in type 1 diabetes, suggesting that the variant phosphatase may increase overall reactivity of the immune system and may heighten an individual carrier's risk for autoimmune disease...
  60. ncbi request reprint Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus
    Timothy W Behrens
    Department of Medicine, Center for Immunology, University of Minnesota Medical School, Minneapolis, 55455, USA
    Novartis Found Symp 267:145-60; discussion 160-4. 2005
    ..Here, we will review these data, and explain how these findings contribute to an understanding of the genetic architecture of human SLE...
  61. ncbi request reprint PTPN22 and rheumatoid arthritis: gratifying replication
    Peter K Gregersen
    Arthritis Rheum 52:1952-5. 2005
  62. pmc Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes
    Lindsey A Criswell
    Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, University of California San Francisco, San Francisco, CA, USA
    Am J Hum Genet 76:561-71. 2005
    ..DNA and clinical data for the MADGC families are available to the scientific community; these data will provide a valuable resource for the dissection of the complex genetic factors that underlie the various autoimmune phenotypes...
  63. ncbi request reprint Macrophage migration inhibitory factor, MIF alleles, and the genetics of inflammatory disorders: incorporating disease outcome into the definition of phenotype
    Peter K Gregersen
    Arthritis Rheum 48:1171-6. 2003
  64. ncbi request reprint Influence of male sex on disease phenotype in familial rheumatoid arthritis
    Damini Jawaheer
    University of California, Los Angeles, USA
    Arthritis Rheum 54:3087-94. 2006
    ..To examine sex differences in clinical, demographic, and genetic characteristics among a large cohort of patients with familial rheumatoid arthritis (RA)...
  65. pmc Neuroprotection in cerebral ischemia by neutralization of 3-aminopropanal
    Svetlana Ivanova
    Laboratory of Biomedical Science, North Shore Long Island Jewish Research Institute, Manhasset, NY 11030, USA
    Proc Natl Acad Sci U S A 99:5579-84. 2002
    ..These results implicate 3-aminopropanal as a therapeutic target for cerebral ischemia...
  66. pmc PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis
    Victoria E H Carlton
    Celera Diagnostics, Alameda, CA 94502, USA
    Am J Hum Genet 77:567-81. 2005
    ..Additional analyses identified two SNPs on a single common haplotype that are associated with RA independent of R620W, suggesting that R620W and at least one additional variant in the PTPN22 gene region influence RA susceptibility...
  67. pmc Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus
    Robert R Graham
    Department of Medicine, Division of Rheumatic and Autoimmune Diseases, University of Minnesota Medical School, Minneapolis, MN, 55455, USA
    Am J Hum Genet 71:543-53. 2002
    ..We conclude that HLA class II haplotypes containing DRB1 and DQB1 alleles are strong risk factors for human SLE...
  68. pmc Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4
    Robert M Plenge
    Broad Institute of MIT and Harvard, Cambridge, MA, USA
    Am J Hum Genet 77:1044-60. 2005
    ....
  69. pmc A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
    Richard H Duerr
    Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA
    Science 314:1461-3. 2006
    ..These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease...
  70. pmc Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
    Chieko Kyogoku
    Department of Medicine, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
    Am J Hum Genet 75:504-7. 2004
    ....
  71. ncbi request reprint Clustering of disease features within 512 multicase rheumatoid arthritis families
    Damini Jawaheer
    North Shore LIJ Research Institute, Manhasset, New York
    Arthritis Rheum 50:736-41. 2004
    ..To determine whether specific rheumatoid arthritis (RA) disease features demonstrate the presence of significant familial clustering...
  72. ncbi request reprint High mobility group box chromosomal protein 1 as a nuclear protein, cytokine, and potential therapeutic target in arthritis
    Luis Ulloa
    Arthritis Rheum 48:876-81. 2003
  73. ncbi request reprint Persistent alterations in the T-cell repertoires of HIV-1-infected and at-risk uninfected men
    M Scott Killian
    Division of Hematology Oncology, Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
    AIDS 18:161-70. 2004
    ..We examined the association between immunogenic exposure and T-cell receptor (TCR) diversity to more clearly assess the impact of HIV-1 infection on the T-cell repertoire...
  74. ncbi request reprint Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families
    Damini Jawaheer
    Center for Genomics and Human Genetics, Manhasset, New York 11030, USA
    Arthritis Rheum 48:906-16. 2003
    ..A number of non-HLA loci that have shown evidence (P < 0.05) for linkage with rheumatoid arthritis (RA) have been previously identified. The present study attempts to confirm these findings...
  75. ncbi request reprint The search for rheumatoid arthritis susceptibility genes: a call for global collaboration
    Damini Jawaheer
    Arthritis Rheum 46:582-4. 2002
  76. ncbi request reprint Rheumatoid arthritis. The genetic components
    Damini Jawaheer
    Division of Biology and Human Genetics, North Shore University Hospital, Manhasset, New York, USA
    Rheum Dis Clin North Am 28:1-15, v. 2002
    ..Preliminary results suggest the involvement of multiple genes, each with relatively modest effect. Genes within the major histocompatibility complex appear to have the strongest influence on disease susceptibility...
  77. pmc Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis
    Chunyu Liu
    Biogen Idec Inc, Cambridge, Massachusetts, USA
    Mol Med 14:575-81. 2008
    ..Replications of these results in independent and larger data sets clearly are required. We provide a reference list of candidate SNPs (P < 0.01) that can be investigated in future pharmacogenomic studies...
  78. ncbi request reprint Effects of serotonin transporter promoter polymorphisms on serotonin function
    Gwenn S Smith
    Department of Psychiatry, The Zucker Hillside Hospital, Glen Oaks, NY 11004, USA
    Neuropsychopharmacology 29:2226-34. 2004
    ....
  79. ncbi request reprint Inferring causal relationships among intermediate phenotypes and biomarkers: a case study of rheumatoid arthritis
    Wentian Li
    The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, North Shore LIJ Health System 350 Community Drive, Manhasset, NY, USA
    Bioinformatics 22:1503-7. 2006
    ..However, among intermediate phenotypes and biomarkers, assigning cause and effect becomes meaningful, and causal inference can be useful...
  80. ncbi request reprint 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...
  81. ncbi request reprint Interaction between smoking, the shared epitope, and anti-cyclic citrullinated peptide: a mixed picture in three large North American rheumatoid arthritis cohorts
    Hye Soon Lee
    Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York 11030, USA
    Arthritis Rheum 56:1745-53. 2007
    ..In an effort to confirm this interaction between smoking and shared epitope alleles, we performed a case-only analysis of 3 North American RA cohorts...
  82. pmc A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping
    Chao Tian
    Rowe Program in Human Genetics, Department of Biochemistry, University of California Davis, Davis, CA 95616, USA
    Am J Hum Genet 80:1014-23. 2007
    ..The results will enable studies of type 2 diabetes, rheumatoid arthritis, and other diseases among which epidemiological studies suggest differences in the distribution of ancestry-associated susceptibility...
  83. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
    ..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized...
  84. ncbi request reprint Dissecting the heterogeneity of rheumatoid arthritis through linkage analysis of quantitative traits
    Lindsey A Criswell
    University of California, San Francisco, CA 94143, USA
    Arthritis Rheum 56:58-68. 2007
    ..To dissect the heterogeneity of rheumatoid arthritis (RA) through linkage analysis of quantitative traits, specifically, IgM rheumatoid factor (IgM-RF) and anti-cyclic citrullinated peptide (anti-CCP) autoantibody titers...
  85. doi request reprint Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
    Geoffrey Hom
    Genentech, South San Francisco, CA 94080, USA
    N Engl J Med 358:900-9. 2008
    ..Alleles of HLA-DRB1, IRF5, and STAT4 are established susceptibility genes; there is strong evidence for the existence of additional risk loci...
  86. pmc European population substructure: clustering of northern and southern populations
    Michael F Seldin
    Rowe Program in Human Genetics, Departments of Biological Chemistry and Medicine, University of California Davis, Davis, California, United States of America
    PLoS Genet 2:e143. 2006
    ..Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies...
  87. ncbi request reprint Variation in radiologic joint destruction in rheumatoid arthritis differs between monozygotic and dizygotic twins and pairs of unrelated patients
    Annette H M van der Helm-van Mil
    Leiden University Medical Center, Leiden, The Netherlands
    Arthritis Rheum 54:2028-30. 2006
  88. ncbi request reprint A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus
    Robert R Graham
    Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 38:550-5. 2006
    ..Thus, a common IRF5 haplotype driving elevated expression of multiple unique isoforms of IRF5 is an important genetic risk factor for SLE, establishing a causal role for type I IFN pathway genes in human autoimmunity...
  89. ncbi request reprint Gene expression profiling in human autoimmunity
    Emily C Baechler
    University of Minnesota Medical School, Minneapolis, MN 55455, USA
    Immunol Rev 210:120-37. 2006
    ..Here, we review the literature on gene profiling in human autoimmune diseases and provide perspective on the current state of the art...
  90. pmc Role for Msh5 in the regulation of Ig class switch recombination
    Hideharu Sekine
    Medical University of South Carolina, Charleston, SC 29425, USA
    Proc Natl Acad Sci U S A 104:7193-8. 2007
    ....
  91. ncbi request reprint The RAGE Gly82Ser polymorphism is not associated with cardiovascular disease in the Framingham offspring study
    Marion A Hofmann
    Division of Surgical Science, Department of Surgery, College of Physicians and Surgeons, Columbia University, 630 W 168th Street, P and S 17 401, New York, NY 10032, USA
    Atherosclerosis 182:301-5. 2005
    ..Further studies are required on other more prevalent genetic variants of RAGE and cardiovascular disease...
  92. pmc Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
    Robert R Graham
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 104:6758-63. 2007
    ....