title: Lack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese.
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 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.
authors.affiliation: Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, China ; Institute of Rheumatology, Immunology, and Allergy, Fudan University, China.
authors.forename: Jiucun
authors.initials: J
authors.lastname: Wang
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA ; Gansu College of Traditional Chinese Medicine, Lanzhou, Gansu, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Yi
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: Xinjian
authors.initials: X
authors.lastname: Guo
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: Dongyi
authors.initials: D
authors.lastname: He
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: Hongyi
authors.initials: H
authors.lastname: Li
authors.affiliation: Yiling Hospital, Shijiazhuang, Hebei Province, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Guo
authors.affiliation: Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Institute of Rheumatology, Immunology, and Allergy, Fudan University, China ; Huashan Hospital, Fudan University, China.
authors.forename: Hejian
authors.initials: H
authors.lastname: Zou
authors.affiliation: Gansu Provincial Hospital, Lanzhou, Gansu, China.
authors.forename: Yuanhui
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Shanghai Traditional Chinese Medicine-Integrated Hospital, Shanghai, China.
authors.forename: Wenzhen
authors.initials: W
authors.lastname: Tu
authors.affiliation: Huashan Hospital, Fudan University, China.
authors.forename: Wenyu
authors.initials: W
authors.lastname: Wu
authors.affiliation: Teaching Hospital of Chengdu University of TCM, Chengdu, Sichuan Province, China.
authors.forename: Li
authors.initials: L
authors.lastname: Yang
authors.affiliation: Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Xiao
authors.affiliation: Department of pathology, Baylor College of Medicine, Michael E. DeBakey VA Medical Center, USA.
authors.forename: Syeling
authors.initials: S
authors.lastname: Lai
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: Shervin
authors.initials: S
authors.lastname: Assassi
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: Maureen D
authors.initials: MD
authors.lastname: Mayes
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Zhou
keywords: CD247; Chinese population; genetics; polymorphism/SNP; scleroderma systemic sclerosis/SSc.