publication . Other literature type . Article . 2008

A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2

Monica Chang; Charles M. Rowland; Veronica E. Garcia; Steven J. Schrodi; Joseph J. Catanese; Annette H. M. van der Helm-van Mil; Kristin G. Ardlie; Christopher I. Amos; Lindsey A. Criswell; Daniel L. Kastner; ...
  • Published: 27 Jun 2008
  • Publisher: Public Library of Science (PLoS)
  • Country: Mexico
Abstract
Author Summary Rheumatoid arthritis (RA), a chronic autoimmune disorder affecting ∼1% of the population, is characterized by immune-cell–mediated destruction of the joint architecture. Gene–environment interactions are thought to underlie RA etiology. Variants within HLA-DRB1 and the hematopoietic-specific phosphatase, PTPN22, are well established RA-susceptibility loci, and although other markers have been identified, they do not fully account for the disease heritability. To identify additional susceptibility alleles, we carried out a multi-tiered, case-control association study genotyping >25,000 putative functional SNPs; here we report our finding of RA-asso...
Subjects
free text keywords: Chromosomes, Human, Pair 9, Humans, Arthritis, Rheumatoid, Genetic Predisposition to Disease, TNF Receptor-Associated Factor 1, Nuclear Proteins, DNA, Intergenic, Genetic Markers, Rheumatoid Factor, Logistic Models, Risk Factors, Case-Control Studies, Physical Chromosome Mapping, Genotype, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Alleles, European Continental Ancestry Group, North America, Netherlands, Female, Male, Genetic Variation, DNA-Binding Proteins, Transcription Factors, Developmental Biology, Research Article, Genetics and Genomics/Genetics of Disease, Genetics, QH426-470, Genetics(clinical), Cancer Research, Ecology, Evolution, Behavior and Systematics, Molecular Biology, Genetic marker, Haplotype, Allele frequency, Single-nucleotide polymorphism, Genotyping, Locus (genetics), Genetic predisposition, Biology
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
,
NIH| EFFECT OF KHC03 ADMINISTRATION ON NOCTURNAL ACCELERATION OF BONE RESORPTION
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2M01RR000079-33
  • Funding stream: NATIONAL CENTER FOR RESEARCH RESOURCES
,
NIH| LINKAGE METHODS FOR QUANTITATIVE AND COMPLEX TRAITS
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01HG002275-05
  • Funding stream: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
88 references, page 1 of 6

Silman, AJ, Pearson, JE. Epidemiology and genetics of rheumatoid arthritis.. Arthritis Res. 2002; 4 (suppl 3): S265-S272 [OpenAIRE] [PubMed]

Firestein, GS. Evolving concepts of rheumatoid arthritis.. Nature. 2003; 423: 356-361 [OpenAIRE] [PubMed]

Scott, DL, Kingsley, GH. Tumor necrosis factor inhibitors for rheumatoid arthritis.. N Engl J Med. 2006; 355: 704-712 [PubMed]

Callahan, LF, Pincus, T. Mortality in the rheumatic diseases.. Arthritis Care Res. 1995; 8: 229-241 [PubMed]

MacGregor, AJ, Snieder, H, Rigby, AS, Koskenvuo, M, Kaprio, J. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.. Arthritis Rheum. 2000; 43: 30-37 [OpenAIRE] [PubMed]

Stastny, P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis.. N Engl J Med. 1978; 298: 869-871 [OpenAIRE] [PubMed]

Hasstedt, SJ, Clegg, DO, Ingles, L, Ward, RH. HLA-linked rheumatoid arthritis.. Am J Hum Genet. 1994; 55: 738-746 [OpenAIRE] [PubMed]

Wordsworth, P, Bell, J. Polygenic susceptibility in rheumatoid arthritis.. Ann Rheum Dis. 1991; 50: 343-346 [OpenAIRE] [PubMed]

Begovich, AB, Carlton, VE, Honigberg, LA, Schrodi, SJ, Chokkalingam, AP. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.. Am J Hum Genet. 2004; 75: 330-337 [OpenAIRE] [PubMed]

Plenge, RM, Padyukov, L, Remmers, EF, Purcell, S, Lee, AT. 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. . Am J Hum Genet. 2005; 77: 1044-1060 [OpenAIRE] [PubMed]

Gregersen, PK, Lee, HS, Batliwalla, F, Begovich, AB. PTPN22: setting thresholds for autoimmunity.. Semin Immunol. 2006; 18: 214-223 [PubMed]

Suzuki, A, Yamada, R, Chang, X, Tokuhiro, S, Sawada, T. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis.. Nat Genet. 2003; 34: 395-402 [OpenAIRE] [PubMed]

Lee, YH, Rho, YH, Choi, SJ, Ji, JD, Song, GG. PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis.. Rheumatol Int. 2007; 27: 827-833 [OpenAIRE] [PubMed]

Remmers, EF, Plenge, RM, Lee, AT, Graham, RR, Hom, G. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.. N Engl J Med. 2007; 357: 977-986 [OpenAIRE] [PubMed]

Plenge, RM, Cotsapas, C, Davies, L, Price, AL, de Bakker, PI. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.. Nat Genet. 2007; 39: 1477-1482 [OpenAIRE] [PubMed]

88 references, page 1 of 6
Abstract
Author Summary Rheumatoid arthritis (RA), a chronic autoimmune disorder affecting ∼1% of the population, is characterized by immune-cell–mediated destruction of the joint architecture. Gene–environment interactions are thought to underlie RA etiology. Variants within HLA-DRB1 and the hematopoietic-specific phosphatase, PTPN22, are well established RA-susceptibility loci, and although other markers have been identified, they do not fully account for the disease heritability. To identify additional susceptibility alleles, we carried out a multi-tiered, case-control association study genotyping >25,000 putative functional SNPs; here we report our finding of RA-asso...
Subjects
free text keywords: Chromosomes, Human, Pair 9, Humans, Arthritis, Rheumatoid, Genetic Predisposition to Disease, TNF Receptor-Associated Factor 1, Nuclear Proteins, DNA, Intergenic, Genetic Markers, Rheumatoid Factor, Logistic Models, Risk Factors, Case-Control Studies, Physical Chromosome Mapping, Genotype, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Alleles, European Continental Ancestry Group, North America, Netherlands, Female, Male, Genetic Variation, DNA-Binding Proteins, Transcription Factors, Developmental Biology, Research Article, Genetics and Genomics/Genetics of Disease, Genetics, QH426-470, Genetics(clinical), Cancer Research, Ecology, Evolution, Behavior and Systematics, Molecular Biology, Genetic marker, Haplotype, Allele frequency, Single-nucleotide polymorphism, Genotyping, Locus (genetics), Genetic predisposition, Biology
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
,
NIH| EFFECT OF KHC03 ADMINISTRATION ON NOCTURNAL ACCELERATION OF BONE RESORPTION
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2M01RR000079-33
  • Funding stream: NATIONAL CENTER FOR RESEARCH RESOURCES
,
NIH| LINKAGE METHODS FOR QUANTITATIVE AND COMPLEX TRAITS
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01HG002275-05
  • Funding stream: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
88 references, page 1 of 6

Silman, AJ, Pearson, JE. Epidemiology and genetics of rheumatoid arthritis.. Arthritis Res. 2002; 4 (suppl 3): S265-S272 [OpenAIRE] [PubMed]

Firestein, GS. Evolving concepts of rheumatoid arthritis.. Nature. 2003; 423: 356-361 [OpenAIRE] [PubMed]

Scott, DL, Kingsley, GH. Tumor necrosis factor inhibitors for rheumatoid arthritis.. N Engl J Med. 2006; 355: 704-712 [PubMed]

Callahan, LF, Pincus, T. Mortality in the rheumatic diseases.. Arthritis Care Res. 1995; 8: 229-241 [PubMed]

MacGregor, AJ, Snieder, H, Rigby, AS, Koskenvuo, M, Kaprio, J. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.. Arthritis Rheum. 2000; 43: 30-37 [OpenAIRE] [PubMed]

Stastny, P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis.. N Engl J Med. 1978; 298: 869-871 [OpenAIRE] [PubMed]

Hasstedt, SJ, Clegg, DO, Ingles, L, Ward, RH. HLA-linked rheumatoid arthritis.. Am J Hum Genet. 1994; 55: 738-746 [OpenAIRE] [PubMed]

Wordsworth, P, Bell, J. Polygenic susceptibility in rheumatoid arthritis.. Ann Rheum Dis. 1991; 50: 343-346 [OpenAIRE] [PubMed]

Begovich, AB, Carlton, VE, Honigberg, LA, Schrodi, SJ, Chokkalingam, AP. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.. Am J Hum Genet. 2004; 75: 330-337 [OpenAIRE] [PubMed]

Plenge, RM, Padyukov, L, Remmers, EF, Purcell, S, Lee, AT. 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. . Am J Hum Genet. 2005; 77: 1044-1060 [OpenAIRE] [PubMed]

Gregersen, PK, Lee, HS, Batliwalla, F, Begovich, AB. PTPN22: setting thresholds for autoimmunity.. Semin Immunol. 2006; 18: 214-223 [PubMed]

Suzuki, A, Yamada, R, Chang, X, Tokuhiro, S, Sawada, T. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis.. Nat Genet. 2003; 34: 395-402 [OpenAIRE] [PubMed]

Lee, YH, Rho, YH, Choi, SJ, Ji, JD, Song, GG. PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis.. Rheumatol Int. 2007; 27: 827-833 [OpenAIRE] [PubMed]

Remmers, EF, Plenge, RM, Lee, AT, Graham, RR, Hom, G. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.. N Engl J Med. 2007; 357: 977-986 [OpenAIRE] [PubMed]

Plenge, RM, Cotsapas, C, Davies, L, Price, AL, de Bakker, PI. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.. Nat Genet. 2007; 39: 1477-1482 [OpenAIRE] [PubMed]

88 references, page 1 of 6
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