Possible Single-Nucleotide Polymorphism Loci Associated with Systemic Sclerosis Susceptibility: A Genetic Association Study in a Chinese Han Population |
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Authors: | Chang Shu Wei Du Xiaofei Mao Yun Li Qin Zhu Wei Wang Nan Wu Xuming Mao Hongzhong Jin Qiuning Sun |
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Institution: | 1. Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.; 2. Department of surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.; 3. Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.; University of Texas Health Science Center at Houston, United States of America, |
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Abstract: | ObjectiveThe aim of this study was to confirm the association of RHOB and FAM167A-BLK gene polymorphisms with susceptibility to systemic sclerosis (SSc) in a Chinese Han population.MethodsA total of 248 SSc patients and 251 healthy controls of Chinese Han ethnicity, which visited the department of dermatology of Peking Union Medical College Hospital, were included in the study. Six selected single nucleotide polymorphisms (SNPs) in the RHOB and FAM167A-BLK regions were selected as markers and were genotyped using a MassARRAY system, which is based on the matrix-assisted laser desorption/ionization time of flight mass spectrometry technique.ResultsThree SNPs in the coding regions of the RHOB and FAM167A-BLK genes displayed an association with SSc: (1) rs1062292T, which is a newly discovered SNP in the RHOB gene (P = 0.03, odds ratio OR] = 1.62, 95% confidence interval (CI) = 1.05–2.50), (2) rs2736340T (P = 0.03, OR = 1.39, 95%CI = 1.03–1.85), and (3) rs13277113A (P = 0.04, OR = 1.34, 95%CI = 1.01–1.76), both in the FAM167A-BLK gene. Our results support previous findings that vaiants in the RHOB and FAM167A-BLK genes may be associated with susceptibility to SSc. However, the loci of the SNPs in RHOB region that displayed an association with SSc are quite different from the loci which were identified in studies of Caucasian populations.ConclusionOur results confirm that RHOB and FAM167A-BLK polymorphisms exist in Chinese Han SSc patients. Therefore, variants of the RHOB and FAM167A-BLK genes are promising genetic markers for SSc. |
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