PMID- 22931704 OWN - NLM STAT- MEDLINE DCOM- 20121101 LR - 20221207 IS - 0317-1671 (Print) IS - 0317-1671 (Linking) VI - 39 IP - 5 DP - 2012 Sep TI - The haplotype of the TGFbeta1 gene associated with cerebral infarction in Chinese. PG - 626-31 AB - BACKGROUND: Transforming growth factor beta1 (TGFbeta1) is a multifunctional cytokine involved in inflammation and pathogenesis of atherosclerosis. The aim of the present study was to investigate the relationship between human TGFbeta1 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). TGFbeta1 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 TGFbeta1 gene might be genetic markers for CI in the Chinese population. FAU - Tao, Hong-miao AU - Tao HM AD - Jinhua College of Profession & Technology, Jinhua City. FAU - Chen, Guo-zhong AU - Chen GZ FAU - Cheng, Gan-ping AU - Cheng GP FAU - Shan, Xiao-yun AU - Shan XY LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Can J Neurol Sci JT - The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques JID - 0415227 RN - 0 (Transforming Growth Factor beta1) SB - IM CIN - Can J Neurol Sci. 2012 Sep;39(5):568-9. PMID: 22931694 MH - Aged MH - Asian People/genetics MH - Cerebral Infarction/*genetics MH - Confidence Intervals MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - *Haplotypes MH - Humans MH - Logistic Models MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide/*genetics MH - Retrospective Studies MH - Transforming Growth Factor beta1/*genetics EDAT- 2012/08/31 06:00 MHDA- 2012/11/02 06:00 CRDT- 2012/08/31 06:00 PHST- 2012/08/31 06:00 [entrez] PHST- 2012/08/31 06:00 [pubmed] PHST- 2012/11/02 06:00 [medline] AID - 4MR21503580127X2 [pii] AID - 10.1017/s0317167100015365 [doi] PST - ppublish SO - Can J Neurol Sci. 2012 Sep;39(5):626-31. doi: 10.1017/s0317167100015365.