title: The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese.
abstract: BACKGROUND
  Transforming growth factor beta1 (TGFβ1) is a multifunctional cytokine involved in inflammation and pathogenesis of atherosclerosis. The aim of the present study was to investigate the relationship between human TGFβ1 gene +869T>C (rs1800470), -509C>T (rs1800469) single nucleotide polymorphisms (SNPs) and haplotypes and cerebral infarction (CI) in a Chinese population.
  
  
  METHODS
  The genetic association study was performed in 450 Chinese patients (306 male and 144 female) with CI and 450 control subjects (326 male and 124 female). TGFβ1 gene +869T>C and -509C>T polymorphisms were identified with amplification refractory mutation system polymerase chain reaction and DNA sequencing method.
  
  
  RESULTS
  The individual SNPs analysis showed the +869T and -509C in an additive model (+869T vs +869C; -509 C vs T), +869TT genotype in a recessive model (TT vs TC+CC) and 509CC genotype in a dominant model (CC+ CT vs TT) were identified to be related to CI (P<0.05). +869T>C and -509C>T SNPs were in strong linkage disequilibrium (d'=0.87, R2=0.75). Haplotype analysis showed that +869C/-509T haplotype was associated with a significant decreased risk of CI (OR= 0.86, 95%CI, 0.70-0.92; P=0.007). Furthermore,+869T/-509C haplotype was associated with a significant increased risk of CI (OR=1.31, 95%CI, 1.10-2.03; P=0.019).
  
  
  CONCLUSIONS
  The results of this study indicate that polymorphisms and the haplotypes in the TGFβ1 gene might be genetic markers for CI in the Chinese population.
authors.affiliation: Jinhua College of Profession & Technology, Jinhua City.
authors.forename: Hong-miao
authors.initials: HM
authors.lastname: Tao
authors.forename: Guo-zhong
authors.initials: GZ
authors.lastname: Chen
authors.forename: Gan-ping
authors.initials: GP
authors.lastname: Cheng
authors.forename: Xiao-yun
authors.initials: XY
authors.lastname: Shan
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D002544:Cerebral Infarction / Q000235:genetics*; D016001:Confidence Intervals; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012189:Retrospective Studies; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1