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Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region
Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region
- Source :
- Journal of Rheumatology, 38(11), 2290-2296. J RHEUMATOL PUBL CO, The Journal of Rheumatology, 38, 2290-6, The Journal of Rheumatology, 38, 11, pp. 2290-6
- Publication Year :
- 2011
-
Abstract
- Objective.The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. Some reports suggest that this single-nucleotide polymorphism (SNP) may not be the only causal variant in the region of PTPN22. Our aim was to identify new independent RA-associated common gene variants in the PTPN22 region.Methods.We analyzed Wellcome Trust Case-Control Consortium genome-wide association study data for associations in the 397.2 kb PTPN22 region and selected 9 associated SNP (with p < 5 × 10−3) for replication and dependence analysis. The replication cohorts comprised 2857 patients with RA and 2994 controls from Spain, Netherlands, and Norway.Results.We found that 6 of the 9 selected SNP were associated in the Spanish cohort. Of these, 4 were also associated in the Dutch and Norwegian cohorts, and all 6 were associated with RA in the combined analysis. Conditional analyses showed that none of these associations was independent of rs2476601.Conclusion.The SNP rs2476601 located in the PTPN22 gene is the sole common genetic variant associated with RA in the 1p13.2 region, suggesting that neighbor genes of PTPN22 do not have a major influence in RA.
- Subjects :
- GENETIC SUSCEPTIBILITY
Immunology
Population
Single-nucleotide polymorphism
Genome-wide association study
INTERACTS
Biology
Polymorphism, Single Nucleotide
AUTOIMMUNE-DISEASES
PTPN22
Arthritis, Rheumatoid
ACTIVATION
GRAVES-DISEASE
Rheumatology
Risk Factors
Genetic predisposition
Immunology and Allergy
SNP
Humans
Genetic Predisposition to Disease
GENOME-WIDE ASSOCIATION
education
Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3]
RHEUMATOID ARTHRITIS
POPULATION
Netherlands
Genetics
education.field_of_study
Norway
Haplotype
Case-control study
LYMPHOID TYROSINE PHOSPHATASE
GENETIC-VARIATION
Protein Tyrosine Phosphatase, Non-Receptor Type 22
GENOTYPES
Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1]
LOGISTIC REGRESSION
Spain
Case-Control Studies
HAPLOTYPES
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 0315162X
- Volume :
- 38
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- Journal of Rheumatology
- Accession number :
- edsair.doi.dedup.....bb3e7db9fcd5e348b8747fc6d2c07b44