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
1 Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, China
2 Institute of Rheumatology, Immunology, and Allergy, Fudan University, China
3 Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA
4 Gansu College of Traditional Chinese Medicine, Lanzhou, Gansu, China
5 Institute of Arthritis Research, Shanghai Academy of Chinese Medical Sciences, Guanghua Integrative Medicine Hospital, Shanghai, China
6 Yiling Hospital, Shijiazhuang, Hebei Province, China
7 Huashan Hospital, Fudan University, China
8 Gansu Provincial Hospital, Lanzhou, Gansu, China
9 Shanghai Traditional Chinese Medicine-Integrated Hospital, Shanghai, China
10 Teaching Hospital of Chengdu University of TCM, Chengdu, Sichuan Province, China
11 Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China
12 Department of pathology, Baylor College of Medicine, Michael E. DeBakey VA Medical Center, USA

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© Wang et al.; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Department of Internal Medicine, University of Texas Medical School at Houston, 6431 Fannin Street, MSB5270, Houston Texas 77030, USA; Tel: 713-500-6900; Fax: 713-500-0580; E-mail:


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.

Keywords: CD247, Chinese population, genetics, polymorphism/SNP, scleroderma systemic sclerosis/SSc..