{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang J"],"funding":["NIAMS NIH HHS"],"pagination":["43-5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4192828"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8"],"pubmed_abstract":["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 t"],"journal":["The open rheumatology journal"],"pubmed_title":["Lack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese."],"pmcid":["PMC4192828"],"funding_grant_id":["R01 AR055258"],"pubmed_authors":["Zou H","Li H","He D","Yang L","Gu Y","Guo X","Wang J","Zhou X","Xiao R","Mayes MD","Yi L","Guo G","Assassi S","Lai S","Wang Y","Wu W","Tu W"],"additional_accession":[]},"is_claimable":false,"name":"Lack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese.","description":"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 t","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014","modification":"2025-06-01T00:47:40.619Z","creation":"2019-03-27T01:37:24Z"},"accession":"S-EPMC4192828","cross_references":{"pubmed":["25317213"],"doi":["10.2174/1874312901408010043"]}}