Research Topics
Genomes and Genes | E F RemmersSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis dataChristopher 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...
Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traitsChristopher 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....
Application of interval haplotype analysis facilitates efficient mapping of the mutation causing osteopetrosis in tl ratsElaine F Remmers
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, 9000 Rockville Pike, Building 10/Room 9N228, Bethesda, MD 20892, USA
Mamm Genome 13:299-301. 2002
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's diseaseElaine F Remmers
National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
Nat Genet 42:698-702. 2010..34-1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 x 10(-9), OR = 1.28, 95% CI 1.18-1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production...
An integrated rat genetic map: analysis of linkage conservation with the mouse and human mapsE F Remmers
Inflammatory Joint Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
Transplant Proc 31:1549-54. 1999
Modulation of multiple experimental arthritis models by collagen-induced arthritis quantitative trait loci isolated in congenic rat lines: different effects of non-major histocompatibility complex quantitative trait loci in males and femalesElaine F Remmers
National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland20892, USA
Arthritis Rheum 46:2225-34. 2002..In the present study, we sought to characterize the independent arthritis-modulating effects of these 5 QTLs...
Localization in rats of genetic loci regulating susceptibility to experimental erosive arthritis and related autoimmune diseasesR L Wilder
Inflammatory Joint Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Transplant Proc 31:1585-8. 1999
An integrated genetic linkage map with 1,137 markers constructed from five F2 crosses of autoimmune disease-prone and -resistant inbred rat strainsS V Dracheva
The Inflammatory Joint Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892, USA
Genomics 63:202-26. 2000..Two hundred forty genes are incorporated in the map. This integrated map should allow comparison of rat genetic maps from different groups and thereby facilitate genetic studies of rat autoimmune and related disease models...
Identification of a new quantitative trait locus on chromosome 7 controlling disease severity of collagen-induced arthritis in ratsS V Dracheva
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bldg 10, Room 9N240, 10 Center Drive MSC 1820, Bethesda, MD 20892, USA
Immunogenetics 49:787-91. 1999....
Linkage map of seven polymorphic markers on rat chromosome 18E F Remmers
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Mamm Genome 4:265-70. 1993..However, genes associated with these markers have been mapped to three different human chromosomes (Chrs 5, 6, and 18). The markers described here should be useful for genetic mapping studies and genetic monitoring of inbred rat strains...
Genetic dissection of collagen-induced arthritis in Chromosome 10 quantitative trait locus speed congenic rats: evidence for more than one regulatory locus and sex influencesB Joe
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA
Immunogenetics 51:930-44. 2000..Regulatory loci for multiple autoimmune/inflammatory diseases in rats (RNO10), mice (MMU11), and humans (HSA17 and HSA5q23-q31) map to chromosomal segments homologous to Cia5 and Cia5a...
A single linkage group comprising 11 polymorphic DNA markers on rat chromosome 3H Zha
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Mamm Genome 5:538-41. 1994..Chromosomal syntenic conservation among rats, mice and humans is also discussed...
Linkage map of 10 polymorphic markers on rat chromosome 2H Zha
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892
Cytogenet Cell Genet 63:117-23. 1993..Comparative gene mapping analysis indicated that a portion of the mapped region of rat chromosome 2 exhibits synteny conservation with regions of human chromosome 1 and mouse Chromosome 3...
Linkage map of nine loci defined by polymorphic DNA markers assigned to rat chromosome 13E F Remmers
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Genomics 18:277-82. 1993..An examination of human and mouse comparative map information for all loci assigned to rat chromosome 13 shows significant synteny conservation with the q arm of human chromosome 1 and the distal portion of mouse chromosome 1...
Genetic maps of polymorphic DNA loci on rat chromosome 1Y P Ding
Arthritis and Rheumatism Branch, National Institutes of Health, Bethesda, Maryland, 20892, USA
Genomics 36:320-7. 1996..Homologs of the rat chromosome 1 genes that we mapped are located on human chromosomes 6, 10, 11, 12, 15, 16, and 19...
Polymorphisms of the tumor necrosis factor receptor type 1 locus among autoimmune susceptible and resistant inbred rat strainsT Furuya
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, 9000 Rockville Pike, Building 10, Room 9N228, Bethesda, MD 20892-1820, USA
Immunogenetics 53:427-9. 2001
Map of seven polymorphic markers on rat chromosome 14: linkage conservation with human chromosome 4E F Remmers
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Mamm Genome 4:90-4. 1993..These polymorphic markers should be useful in genetic linkage studies of important phenotypes in rats...
Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on autosomal modifier lociT Furuya
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892 1820, USA
Hum Mol Genet 9:2241-50. 2000..Our data support the view that multiple autoimmune diseases may share genetic risk factors, and suggest that many of these loci are gender influenced...
Susceptibility to autoimmune disease and drug addiction in inbred rats. Are there mechanistic factors in common related to abnormalities in hypothalamic-pituitary-adrenal axis and stress response function?R L Wilder
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bldg 10, Room 9N240, Bethesda, Maryland 20892, USA
Ann N Y Acad Sci 917:784-96. 2000..These initial data, however, indicate that the genetic control of the autoimmune disease traits is highly complex...
Identification of a new non-major histocompatibility complex genetic locus on chromosome 2 that controls disease severity in collagen-induced arthritis in ratsP S Gulko
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
Arthritis Rheum 41:2122-31. 1998..To identify novel non-major histocompatibility complex (non-MHC) genetic loci controlling the severity of homologous rat type II collagen-induced arthritis (CIA)...
Identification of genomic regions controlling experimental autoimmune uveoretinitis in ratsS H Sun
Laboratory of Immunology, National Eye Institute, NIH, Bethesda, MD 20892, USA
Int Immunol 11:529-34. 1999..Further analysis of these genomic regions may lead to identification of the susceptibility genes and to characterization of their function...
Genetic map of seven polymorphic markers comprising a single linkage group on rat chromosome 5E A Goldmuntz
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Mamm Genome 4:670-5. 1993..These markers, located on rat Chr 5, will be useful in genetic studies of inbred rats...
Localization of quantitative trait loci regulating adjuvant-induced arthritis in rats: evidence for genetic factors common to multiple autoimmune diseasesY Kawahito
The Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892 1820, USA
J Immunol 161:4411-9. 1998..The rat models appear to provide a powerful complementary approach to identify and characterize candidate genes that may contribute to autoimmune diseases in several species...
A genome scan localizes five non-MHC loci controlling collagen-induced arthritis in ratsE F Remmers
Inflammatory Joint Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892, USA
Nat Genet 14:82-5. 1996..These genes may also represent novel targets for therapy...
Genetic mapping of the athymic nude (RNU) locus in the rat to a region on chromosome 10J M Cash
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Mamm Genome 4:37-42. 1993..The position of the RNU locus in the rat corresponds closely with that of the recently reported nu locus in the mouse. This finding suggests that the nude phenotype in the rat and the mouse arise from defects in homologous genes...
Genetic factors involved in central nervous system/immune interactionsR L Wilder
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Adv Exp Med Biol 493:59-67. 2001..Further genetic dissection and identification of the underlying genes will be necessary to infer a mechanistic link between autoimmune and neuroendocrine traits...
Genomic cloning and genetic mapping of the rat Nramp1 (Bcg) gene on chromosome 9L Ge
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-1820, USA
Mamm Genome 7:856-7. 1996
Polymorphisms of the tumor necrosis factor alpha locus among autoimmune disease susceptible and resistant inbred rat strainsT Furuya
Inflammatory Joint Diseases Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, 9000 Rockville Pike, Building 10, Room 9N240, Bethesda, MD 20892, USA
Genes Immun 2:229-32. 2001..These polymorphisms may serve as good candidates for analysis of TNF expression to elucidate the mechanism(s) by which the MHC regulates susceptibility and/or severity of autoimmune diseases...
Evaluation of quantitative trait loci regulating severity of mycobacterial adjuvant-induced arthritis in monocongenic and polycongenic rats: identification of a new regulatory locus on rat chromosome 10 and evidence of overlap with rheumatoid arthritis suBina Joe
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
Arthritis Rheum 46:1075-85. 2002..To evaluate the regulatory potential of genetic loci controlling Mycobacterium butyricum adjuvant-induced arthritis (Mbt-AIA) using mono- and polycongenic rats...
Variant form of STAT4 is associated with primary Sjögren's syndromeB D Korman
Complex Disease Genetics Unit, Genetics and Genomics Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, Bethesda, MD 20892, USA
Genes Immun 9:267-70. 2008..6%) than in controls (22.3%), leading to a P-value for association of 0.01. These results implicate polymorphisms in the STAT4 gene in the pathogenesis of pSS...
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseasesIvona Aksentijevich
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
Arthritis Rheum 46:3340-8. 2002....
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever proteinJ G Ryan
National Institute of Arthritis and Musculoskeletal and Skin Diseases, Building 10, Magnuson Clinical Center, 10C101C, Bethesda, Maryland 20892, USA
Ann Rheum Dis 69:1383-8. 2010..The aim was to characterise the phenotype of patients with these substitutions and to determine their functional significance...
The epimorphin gene is highly conserved among humans, mice, and rats and maps to human chromosome 7, mouse chromosome 5, and rat chromosome 12H Zha
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Genomics 37:386-9. 1996..The mouse and human homologs of this gene were localized on mouse chromosome 5 and human chromosome 7 by linkage analysis and chromosomal in situ hybridization, respectively...
Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibilityA Addo
Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892 0908, USA
Scand J Rheumatol 34:198-203. 2005..In this study we sought to determine whether CD-associated mutations or any common variants of this gene might contribute to susceptibility to another chronic inflammatory disease, rheumatoid arthritis (RA)...
Genetic map of nine polymorphic loci comprising a single linkage group on rat chromosome 10: evidence for linkage conservation with human chromosome 17 and mouse chromosome 11E F Remmers
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Genomics 14:618-23. 1992..Comparative gene mapping analysis indicated that this region of rat chromosome 10 exhibits linkage conservation with regions of human chromosome 17 and mouse chromosome 11...
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumorsAnelia Horvath
Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, 10 Center Drive, CRC, Room 1 3330, Bethesda, MD 20892, USA
Cancer Res 69:5301-6. 2009..In conclusion, we report that PDE11A-inactivating sequence variants may modify the risk of familial and bilateral TGCT...
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosusElaine 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...
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin modelIvona Aksentijevich
Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
Arthritis Rheum 56:1273-85. 2007..This study was undertaken to investigate the structural effect of disease-causing mutations on cryopyrin, in order to gain better understanding of the impact of disease-associated mutations on protein function...
Common genetic determinants of uveitis shared with other autoimmune disordersMary J Mattapallil
Laboratory of Immunology, National Eye Institute, NIH, Bethesda, MD 20892, USA
J Immunol 180:6751-9. 2008..Our results suggest that uveitis shares some of the pathogenic mechanisms associated with other autoimmune diseases, and lends support to the "common gene, common pathway" hypothesis for autoimmune disorders...
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the populationAnelia Horvath
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Resources, NIH, Bethesda, MD 20892, USA
Cancer Res 66:11571-5. 2006..We speculate that PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected clinical spectrum that includes asymptomatic individuals...
Mutation of macrophage colony stimulating factor (Csf1) causes osteopetrosis in the tl ratDavid E Dobbins
Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814 4799, USA
Biochem Biophys Res Commun 294:1114-20. 2002..These data suggest that osteopetrosis develops in tl/tl rats because they cannot produce functional mCsf, a growth factor required for osteoclast differentiation and activation...
Familial Mediterranean fever with a single MEFV mutation: where is the second hit?Matthew G Booty
Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1820, USA
Arthritis Rheum 60:1851-61. 2009..The purpose of this study was to perform an extensive search for a second MEFV mutation in 46 patients diagnosed clinically as having FMF and carrying only 1 high-penetrance FMF mutation...
STAT4: genetics, mechanisms, and implications for autoimmunityBenjamin 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...
The chromosome 7q region association with rheumatoid arthritis in females in a British population is not replicated in a North American case-control seriesBenjamin D Korman
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1849, USA
Arthritis Rheum 60:47-52. 2009..We sought to replicate this finding and to better characterize susceptibility alleles in the region in a North American population...
Localization of the mutation responsible for osteopetrosis in the op rat to a 1.5-cM genetic interval on rat chromosome 10: identification of positional candidate genes by radiation hybrid mappingDavid E Dobbins
Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814-4799, USA
J Bone Miner Res 17:1761-7. 2002....
Production of platelet derived growth factor B chain (PDGF-B/c-sis) mRNA and immunoreactive PDGF B-like polypeptide by rheumatoid synovium: coexpression with heparin binding acidic fibroblast growth factor-1E F Remmers
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892
J Rheumatol 18:7-13. 1991....
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistIvona Aksentijevich
National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
N Engl J Med 360:2426-37. 2009..We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone...
The non-MHC quantitative trait locus Cia5 contains three major arthritis genes that differentially regulate disease severity, pannus formation, and joint damage in collagen- and pristane-induced arthritisMax Brenner
Laboratory of Experimental Rheumatology, Robert S Boas Center for Genomics and Human Genetics and Graduate School of Molecular Medicine, North Shore Long Island Jewish LIJ Research Institute, Manhasset, NY 11030, USA
J Immunol 174:7894-903. 2005..These loci are syntenic to regions on human chromosomes 17q and 5q implicated in the susceptibility to rheumatoid arthritis, suggesting that the identification of these genes will be relevant to human disease...
Common variants at CD40 and other loci confer risk of rheumatoid arthritisSoumya 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)...
Identification of two novel female-specific non-major histocompatibility complex loci regulating collagen-induced arthritis severity and chronicity, and evidence of epistasisHsiang Chi Meng
North Shore Long Island Jewish Research Institute, Manhasset, New York 11030, USA
Arthritis Rheum 50:2695-705. 2004....
Genomic regions controlling corticosterone levels in ratsMarc N Potenza
Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06519, USA
Biol Psychiatry 55:634-41. 2004..The identification of genetic factors controlling stress-responsiveness should advance the understanding of susceptibility to psychiatric illness...
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 PADI4Robert M Plenge
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Am J Hum Genet 77:1044-60. 2005....
Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locusHye 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...
Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et alIvona Aksentijevich
Arthritis Rheum 54:2703-4; author reply 2704-5. 2006
The non-major histocompatibility complex quantitative trait locus Cia10 contains a major arthritis gene and regulates disease severity, pannus formation, and joint damageMax Brenner
Laboratory of Experimental Rheumatology, R S Boas Center for Genomics and Human Genetics, North Shore Long Island Jewish Research Institute, 350 Community Drive, Manhasset, NY 11030, USA
Arthritis Rheum 52:322-32. 2005....
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide studyRobert 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...
Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosusKimberly 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...
Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope allelesPatricia 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)...
The functional -169T-->C single-nucleotide polymorphism in FCRL3 is not associated with rheumatoid arthritis in white North AmericansXiaolan Hu
Celera Diagnostics, Alameda, CA
Arthritis Rheum 54:1022-5. 2006
Association of STAT4 with rheumatoid arthritis in the Korean populationHye 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....
Two independent alleles at 6q23 associated with risk of rheumatoid arthritisRobert 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...
