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Replication of British Rheumatoid Arthritis Susceptibility Loci in Two Unrelated Chinese Population Groups

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Date 2013 Oct 2
PMID 24082910
Citations 2
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Abstract

Previous genome-wide association study by WTCCC identified many susceptibility loci of common autoimmune diseases in British, including rheumatoid arthritis (RA). Because of the genetic heterogeneity of RA, it is necessary to replicate these susceptibility loci in other populations. Here, three SNPs with strong RA association signal in the British were analyzed in Han Chinese, and two SNPs (rs6457617 and rs11761231) were genotyped in the test cohort firstly. The rs6457617 was significantly associated with RA in the test cohort. The individuals bearing the homozygous genotype CC had 0.39-fold risk than these bearing the wild-type genotype TT (P = 0.004, OR 0.39, [95% CI 0.21-0.74]). And the protective effect of allele C was confirmed in another validation cohort with 1514 samples (P genotye CC/TT = 5.9 ×  10(-10), OR 0.34, [95% CI 0.24-0.48]). The rs6457617 can be used as a tagSNP of HLA-DQA1∗03 which encoded MHC-II α chain. Since MHC restriction is important for primary T-cells in positive selection and negative selection stages, MHC protein polymorphisms may be implicated in shaping the T-cell repertoire, including the emergence of a T-cell clone involved in the inflammatory arthritis.

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References
1.
Harvey J, Lotze M, STEVENS M, Lambert G, Jacobson D . Rheumatoid arthritis in a Chippewa Band. I. Pilot screening study of disease prevalence. Arthritis Rheum. 1981; 24(5):717-21. DOI: 10.1002/art.1780240515. View

2.
Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M . Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet. 2003; 34(4):395-402. DOI: 10.1038/ng1206. View

3.
Kallberg H, Padyukov L, Plenge R, Ronnelid J, Gregersen P, van der Helm-van Mil A . Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. Am J Hum Genet. 2007; 80(5):867-75. PMC: 1852748. DOI: 10.1086/516736. View

4.
Laivoranta-Nyman S, Mottonen T, Hermann R, Tuokko J, Luukkainen R, Hakala M . HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis. Ann Rheum Dis. 2004; 63(11):1406-12. PMC: 1754800. DOI: 10.1136/ard.2003.009969. View

5.
Zeng Q, Huang S, Chen R . [10-year epidemiological study on rheumatic diseases in Shantou area]. Zhonghua Nei Ke Za Zhi. 1997; 36(3):193-7. View