含sorbin和SH3结构域蛋白1（SORBS1）基因多态性与日本人群脑梗死风险：福冈卒中登记研究和久山研究

Polymorphism in the sorbin and SH3-domain-containing-1 (SORBS1) gene and the risk of brain infarction in the Japanese population: the Fukuoka Stroke Registry and the Hisayama study.

作者信息

Hagiwara N, Kitazono T, Kamouchi M, Kuroda J, Ago T, Hata J, Ninomiya T, Ooboshi H, Kumai Y, Yoshimura S, Tamaki K, Fujii K, Nagao T, Okada Y, Toyoda K, Nakane H, Sugimori H, Yamashita Y, Wakugawa Y, Kubo M, Tanizaki Y, Kiyohara Y, Ibayashi S, Iida M

机构信息

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

Eur J Neurol. 2008 May;15(5):481-6. doi: 10.1111/j.1468-1331.2008.02105.x.

DOI:10.1111/j.1468-1331.2008.02105.x

PMID:18394047

Abstract

BACKGROUND AND PURPOSE

Sorbin and SH3-domain-containing-1 (SORBS1) is an important adaptor protein in insulin-signalling pathway, and its genetic polymorphism may regulate the activity of insulin resistance. We investigated the association between the SORBS1 T228A polymorphism and ischaemic stroke.

METHODS

Genotyping was achieved by a rapid-cycle PCR and melting curve analysis using fluorescent probes in 1049 incident cases of ischaemic stroke and 1049 age- and sex-matched control subjects recruited from the Hisayama study.

RESULTS

The allele distributions of the SORBS1 T228A polymorphism were similar amongst cases and controls. The multivariate-adjusted odds ratio (OR) of the AA genotype for ischaemic stroke was 2.897 (95% CI, 0.907-8.018) compared with the TT genotype. In terms of stroke subtype, there was a trend toward a difference in the AA genotypes for lacunar infarction, compared with the TT genotype (OR = 8.740, P = 0.0510), and combined TT and TA genotypes (OR = 8.768, P = 0.0505). The other polymorphisms genotyped were not associated with any subtypes of ischaemic stroke. T228A polymorphism of SORBS1 was not associated with the prevalence of diabetes.

CONCLUSIONS

The AA genotype of SORBS1 T228A polymorphism may play a role in lacunar infarction in the Japanese population.

摘要

背景与目的

含sorbin和SH3结构域蛋白1（SORBS1）是胰岛素信号通路中的一种重要衔接蛋白，其基因多态性可能调节胰岛素抵抗的活性。我们研究了SORBS1 T228A多态性与缺血性卒中之间的关联。

方法

采用快速循环聚合酶链反应（PCR）和荧光探针熔解曲线分析技术，对从久山研究中招募的1049例缺血性卒中患者及1049例年龄和性别匹配的对照者进行基因分型。

结果

SORBS1 T228A多态性的等位基因分布在病例组和对照组中相似。与TT基因型相比，缺血性卒中AA基因型的多因素调整比值比（OR）为2.897（95%可信区间，0.907 - 8.018）。就卒中亚型而言，与TT基因型相比，腔隙性梗死的AA基因型存在差异趋势（OR = 8.740，P = 0.0510），与TT和TA基因型合并组相比也存在差异趋势（OR = 8.768，P = 0.0505）。其他基因分型的多态性与缺血性卒中的任何亚型均无关联。SORBS1的T228A多态性与糖尿病患病率无关。