title: Possible single-nucleotide polymorphism loci associated with systemic sclerosis susceptibility: a genetic association study in a Chinese Han population.
abstract: OBJECTIVE
  The 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.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  Three 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.
  
  
  CONCLUSIONS
  Our 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.
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Chang
authors.initials: C
authors.lastname: Shu
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Wei
authors.initials: W
authors.lastname: Du
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Mao
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Department of surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Nan
authors.initials: N
authors.lastname: Wu
authors.affiliation: Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
authors.forename: Xuming
authors.initials: X
authors.lastname: Mao
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Hongzhong
authors.initials: H
authors.lastname: Jin
authors.affiliation: Department of dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing (100005), China.
authors.forename: Qiuning
authors.initials: Q
authors.lastname: Sun
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult; D020743:rhoB GTP-Binding Protein / Q000235:genetics*; D064267:Intrinsically Disordered Proteins
chemical_list: D011506:Proteins; D020743:rhoB GTP-Binding Protein; C584607:FAM167A protein, human; D064267:Intrinsically Disordered Proteins