title: Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population.
abstract: BACKGROUND
  Thromboangiitis obliterans (TAO), also called Buerger's disease, is a chronic peripheral vascular occlusive disease. It is an obliterative vasculitis characterized by arterial thrombosis and strongly associated with tobacco exposure. The pathogenesis and etiology of TAO are not well understood, but genetic factors may be important in its development. A case-control study was undertaken to identify genetic factors potentially involved in the pathogenesis of TAO in a Xinjiang Uyghur population of China, where TAO is common.
  
  
  METHODS
  We ascertained 177 TAO patients by clinical screening and 86 healthy individuals from the HAPMAP database. The genotypes of single-nucleotide polymorphisms (SNPs) of the participants were identified using the Affymetrix Genome-Wide Human SNP Array 6.0 to perform a genome wide association study (GWAS). The association between the SNPs and incidence of TAO was quantified using race stratification exposure.
  
  
  RESULTS
  Through a case-control GWAS study 26 SNPs were significantly associated with incidence of TAO following a Bonferroni correction. However, after genomic control correction for population stratification only three of these SNPS were highly significantly associated with TAO: rs376511 in IL17RC (OR = 24.4, 95% CI:8.68 - 68.62, p < 0.0001), rs7632505 in SEMA5B (OR = 29.47, 95% CI:7.16 - 121.3, p < 0.0001), and rs10178082 (OR = 18.09, 95% CI: 6.56 - 49.92, p < 0.0001) showed a significant risk of TAO in the Uyghur population.
  
  
  CONCLUSIONS
  This study shows an association between these 3 SNPs and susceptibility to TAO in the Uyghur population, suggesting that polymorphisms in the IL-17RC and Sema 5B genes may pre-dispose individuals in this population to development of TAO. These findings require replication.
authors.affiliation: 1 Xinjiang Medical University , Xinjiang, China .|2 Department of Vascular Surgery, People's Hospital of Xinjiang Uygur Autonomous Region , Urumqi, Xinjiang, China .
authors.forename: Zhen-Feng
authors.initials: ZF
authors.lastname: Shi
authors.affiliation: 2 Department of Vascular Surgery, People's Hospital of Xinjiang Uygur Autonomous Region , Urumqi, Xinjiang, China .
authors.forename: Qing-Bo
authors.initials: QB
authors.lastname: Fang
authors.affiliation: 2 Department of Vascular Surgery, People's Hospital of Xinjiang Uygur Autonomous Region , Urumqi, Xinjiang, China .
authors.forename: Sai
authors.initials: S
authors.lastname: Limu
authors.affiliation: 2 Department of Vascular Surgery, People's Hospital of Xinjiang Uygur Autonomous Region , Urumqi, Xinjiang, China .
authors.forename: Tang
authors.initials: T
authors.lastname: Jiareke
authors.affiliation: 2 Department of Vascular Surgery, People's Hospital of Xinjiang Uygur Autonomous Region , Urumqi, Xinjiang, China .
authors.forename: Xiao-Hu
authors.initials: XH
authors.lastname: Ge
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D039961:Semaphorins / Q000235:genetics*; D013919:Thromboangiitis Obliterans / Q000208:ethnology / Q000235:genetics
chemical_list: C448419:IL17RC protein, human; D008562:Membrane Glycoproteins; D018123:Receptors, Interleukin; C409766:SEMA3B protein, human; D039961:Semaphorins
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