biostudies-literatureWang JNIAMS NIH HHS43-5https://www.ebi.ac.uk/biostudies/studies/S-EPMC4192828biostudies-literatureUnknown8Systemic sclerosis (SSc) is a complex disease involving multiple genetic factors. A recent genome-wide association study (GWAS) indicated that CD247 was strongly associated with SSc, which was subsequently confirmed in a SSc cohort of European population. However, genetic heterogeneity in different ethnic populations may significantly impact the complex trait of SSc. The studies herein aimed to examine whether the SSc-associated SNP rs2056626 of CD247 identified in Caucasian is also associated with Han Chinese SSc. A Han Chinese cohort consisting of 387 SSc patients and 523 healthy controls were examined in the studies. TaqMan assays were performed to examine the SNP. Exact p-values were obtained (Fisher's test) from 2x2 tables of allele counts and disease status. The results showed that tThe open rheumatology journalLack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese.PMC4192828R01 AR055258Zou HLi HHe DYang LGu YGuo XWang JZhou XXiao RMayes MDYi LGuo GAssassi SLai SWang YWu WTu WfalseLack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese.Systemic sclerosis (SSc) is a complex disease involving multiple genetic factors. A recent genome-wide association study (GWAS) indicated that CD247 was strongly associated with SSc, which was subsequently confirmed in a SSc cohort of European population. However, genetic heterogeneity in different ethnic populations may significantly impact the complex trait of SSc. The studies herein aimed to examine whether the SSc-associated SNP rs2056626 of CD247 identified in Caucasian is also associated with Han Chinese SSc. A Han Chinese cohort consisting of 387 SSc patients and 523 healthy controls were examined in the studies. TaqMan assays were performed to examine the SNP. Exact p-values were obtained (Fisher's test) from 2x2 tables of allele counts and disease status. The results showed that t2014-01-01T00:00:00Z20142025-06-01T00:47:40.619Z2019-03-27T01:37:24ZS-EPMC41928282531721310.2174/1874312901408010043