Department of Neurology, Jinling Clinical College of Nanjing Medical University, Nanjing 210002, Jiangsu, China.
Department of Neurology, Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, Jiangsu, China.
Gene. 2019 Apr 5;691:18-23. doi: 10.1016/j.gene.2018.12.026. Epub 2018 Dec 20.
A recent genome-wide association study (GWAS) reported an association between a single nucleotide polymorphism (SNP) rs11196288 and risk of early-onset large artery atherosclerotic (LAA) stroke in European population. The interaction between genetic and environmental factors such as age has also received increasing attention. We performed this study to investigate the association between the rs11196288A > G polymorphism and LAA stroke risk in the Chinese Han population and test whether age interacts rs11196288 to influence LAA stroke risk.
Genotyping of rs11196288 was performed in 1066 LAA stroke patients and 1167 healthy controls. Multivariate logistic regression analyses were applied to assess the effect of the rs11196288A > G polymorphism on susceptibility and short-term outcome of LAA stroke. Nomograms were performed to estimate probability of risk for an individual patient.
A significant decrement of LAA stroke risk was found in co-dominant (AG vs. AA, OR = 0.76, 95% CI = 0.64-0.91, P = 0.003; GG vs. AA, OR = 0.65, 95% CI = 0.50-0.85, P = 0.002), dominant (AG/GG vs. AA, OR = 0.74, 95% CI = 0.62-0.87, P < 0.001) and recessive models (GG vs. AA/AG, OR = 0.76, 95% CI = 0.59-0.97, P = 0.028) of rs11196288. However, the interaction between age and genotypes of rs11196288 was not statistically significant, and no significant association was observed between the rs11196288A > G polymorphism and short-term outcome of LAA stroke (P > 0.05).
In the southeastern Chinese population, the rs11196288A > G polymorphism is associated with decreased risk of LAA stroke.
最近的一项全基因组关联研究（GWAS）报告称，单核苷酸多态性（SNP）rs11196288 与欧洲人群早发性大动脉粥样硬化性（LAA）卒中风险之间存在关联。遗传和环境因素（如年龄）之间的相互作用也受到越来越多的关注。我们进行这项研究，旨在调查 rs11196288A>G 多态性与中国汉族人群 LAA 卒中风险之间的关系，并检验年龄是否与 rs11196288 相互作用影响 LAA 卒中风险。
对 1066 例 LAA 卒中患者和 1167 例健康对照者进行 rs11196288 基因分型。应用多变量 logistic 回归分析评估 rs11196288A>G 多态性对 LAA 卒中易感性和短期结局的影响。通过列线图来估计个体患者的风险概率。
共显性（AG 与 AA，OR=0.76，95%CI=0.64-0.91，P=0.003；GG 与 AA，OR=0.65，95%CI=0.50-0.85，P=0.002）、显性（AG/GG 与 AA，OR=0.74，95%CI=0.62-0.87，P<0.001）和隐性（GG 与 AA/AG，OR=0.76，95%CI=0.59-0.97，P=0.028）模型中，rs11196288 与 LAA 卒中风险呈显著降低趋势。然而，年龄与 rs11196288 基因型之间的交互作用无统计学意义，且 rs11196288A>G 多态性与 LAA 卒中的短期结局之间未见显著关联（P>0.05）。
在中国东南部人群中，rs11196288A>G 多态性与 LAA 卒中风险降低相关。
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