The association of BANK1 single nucleotide polymorphisms with rheumatoid arthritis in Chinese Han population
10.3760/cma.j.issn.1007-7480.2012.02.003
- VernacularTitle:中国汉族人群B细胞表面调节蛋白基因1单核苷酸多态性与类风湿关节炎的相关性研究
- Author:
Ning KONG
;
Zhiyuan WU
;
Lei JIANG
;
Yuming CHEN
;
Ming GUAN
;
Hejian ZOU
- Publication Type:Journal Article
- Keywords:
Arthritis,rheumatoid;
HAN nationality;
Polymorphism,single nucleotide;
BANK1
- From:
Chinese Journal of Rheumatology
2012;16(2):82-86
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo investigate the association of BANK1 single nucleotide polymorphisms (SNPs) with rheumatoid arthritis(RA) in Chinese Han. MethodsTwo hundreds and twenty-one RA patients and 310 healthy controls who were Chinses Han population from Huashan Hopital and Changzheng Hospital in Shanghai,China were included.DNAs were extracted from peripheral whole blood for study.Samples were genotyped for three variants rs10516487,rs17266594 and rs3733197 in BANK1 by unlabelled probe high resolution melting (HRM) assay.The genotype frequencies of the detected polymorphisms were analyzed in relation to RA and the production of autoantibodies in RA patients.ResultsThe Tr genotype frequency was much higher in RA patients than in healthy controls(X2=6.241,P=0.044).The frequencies of rs10516487 G allele,rs17266594 T allele and rs3733197 G allele were increased among RA patients compared with healthy controls,although they didn't reach statistical significance.The rs10516487 and rs17266594 were found in strong linkage disequilibrium(D'=0.993,r2=0.985).And also the major TGG haplotype of 3-SNP was significantly associated with RA patients[P=0.037,OR =1.345,95％CI (1.018-1.776)].ConclusionBANK1 rs17266594 polymorphism is susceptible to RA,while rs10516487 and rs17266594 are linked in Chinese Han population.BANK1 SNPs TGG haplotype may contribute to RA susceptibility,too.
