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The Haplotype of the TGFβ1 Gene Associated with Cerebral Infarction in Chinese

Published online by Cambridge University Press:  02 December 2014

Hong-miao Tao ,
Guo-zhong Chen ,
Gan-ping Cheng  and
Xiao-yun Shan
Hong-miao Tao
Affiliation:
School of Medicine, Jinhua College of Profession & Technology, Jinhua City
Guo-zhong Chen
Affiliation:
School of Medicine, Jinhua College of Profession & Technology, Jinhua City
Gan-ping Cheng
Affiliation:
Department of Neurology, Jinhua Central Hospital, Jinhua, Zhejiang Province, The People's Republic of China
Xiao-yun Shan*
Affiliation:
Jinhua People's Hospital, Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang Province, The People's Republic of China
*
Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua 321000, Zhejiang Province, the People's Republic of China. Email: shxyun111@163.com
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Abstract

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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.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 39 , Issue 5 , September 2012 , pp. 626 - 631
Copyright
Copyright © The Canadian Journal of Neurological 2012

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