The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese

• Published in: Canadian journal of neurological sciences Vol. 39; no. 5; p. 626
• Main Authors: Tao, Hong-miao, Chen, Guo-zhong, Cheng, Gan-ping, Shan, Xiao-yun
• Format: Journal Article
• Language: English
• Published: England 01.09.2012
• Subjects: Aged; Asian Continental Ancestry Group - genetics; Cerebral Infarction - genetics; Confidence Intervals; Female; Gene Frequency; Genetic Association Studies; Haplotypes; Humans; Logistic Models; Male; Middle Aged; Polymorphism, Single Nucleotide - genetics; Retrospective Studies; Transforming Growth Factor beta1 - genetics
• ISSN: 0317-1671
• DOI: 10.1017/S0317167100015365

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. 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. 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). 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.