中文摘要：

目的探讨染色体12p13两基因间rs11833579G〉A和rsl2425791G〉A多态位点与福建汉族人脑梗死及亚型的关系。方法采用病例一对照研究，联合聚合酶链反应一限制性片段长度多态性分析及直接测序技术检测基因型，对216例脑梗死患者及279名健康对照者上述两位点进行基因型、基因频率比较及关联分析。结果脑梗死组rs12425791位点GA基因型频率低于对照组（分别为34．3％和43．4％，X2=4．298，P〈0．05），大动脉粥样硬化型脑梗死亚组该基因型频率虽略低于对照组，但差异无统计学意义。Logistic多因素回归分析提示rs12425791位点GA基因型个体发生大动脉粥样硬化型脑梗死的风险降低（OR=0．613，95％C／0．396～0．949，P=0．028），男性亚组中GA基因型罹患脑梗死的风险较低（OR=0．597，95％CI 0．364～0．978，P=0．041）。rs11833579位点对患病风险无明显影响。结论rs12425791位点可能是福建汉族人动脉粥样硬化型脑梗死的遗传风险标记。

英文摘要：

Objective To investigate the association of single nucleotide polymorphisms （SNPs）of rs11833579 and rs12425791 on chromosome 12p13 with cerebral infarction in the Fujian Han population. Methods A case-control association study containing a total of 216 cases and 279 controls was carried out. The genotypes of two polymorphisms were evaluated by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and direct DNA sequencing followed by association analysis. Results The frequency of G 〉 A genotype of rs12425791 in patients with cerebral infarction was lower than that in the controls （34. 3% vs 43.4% , X2 = 4. 298,P 〈 0. 05） after stratified by causes of cerebral infarction, there was no significant difference in this genotype between large-artery atheroselerosis and controls. Association analysis was performed by logistic regression model after adjusting by sex, age, hypertension, diabetes mellitus, dyslipidemia, smoking and drinking. Rs12425791 G 〉 A genotype was significantly associated with both cerebral infarction （ OR = 0. 627, 95% CI O. 417-0. 941, P = 0. 024） and large-artery atherosclerosis （ OR =0. 613, 95% CI 0. 396-0. 949 ,P =0. 028）. G 〉 A genotype might be a potential protective factor in male（ OR = 0. 597, 95% CI 0. 364--0. 978, P = 0. 041 ）. rs11833579 G 〉 A genotype frequency was similar between eases and controls. Conclusion rs12425791 G 〉 A on chromosome 12p13 might be a genetic marker for atherothrombotie brain infarction in Han population of Fujian.