Lack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese
Jiucun Wang 1, 2, Lin Yi 3, 4, Xinjian Guo 3, Dongyi He 3, Hongyi Li 3, Gang Guo 6, Yi Wang 1, Hejian Zou 2, 7, Yuanhui Gu 8, Wenzhen Tu 9, Wenyu Wu 7, Li Yang 10, Rong Xiao 11, Syeling Lai 12, Shervin Assassi 3, Maureen D Mayes 3, Xiaodong Zhou *, 3
Identifiers and Pagination:Year: 2014
First Page: 43
Last Page: 45
Publisher Id: TORJ-8-43
Article History:Received Date: 14/7/2014
Revision Received Date: 5/9/2014
Acceptance Date: 11/9/2014
Electronic publication date: 2 /10/2014
Collection year: 2014
open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
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 there was no association between rs2056626 of CD247 and SSc or any SSc subtypes of Han Chinese. The negative results are important in understanding genetics of SSc in different ethnic populations, which further suggest complex nature of genetics of SSc.