去整合素金属蛋白酶10基因启动子区多态性变化与腔隙性脑梗死发病风险的关系

目的观察腔隙性脑梗死患者去整合素金属蛋白酶（ADAM）10基因启动子区多态性变化，分析此多态性变化与腔隙性脑梗死发病风险的关系。方法研究对象为173例腔隙性脑梗死患者（梗死组）和297例非脑血管病体检者（对照组），采用Snapshot分型技术检测ADAMIO基因启动子区rs653765和rs514049位点多态性，采用B型彩色多普勒超声仪测量颈动脉内膜中层厚度（CIMT）；比较两组位点多态性及其与梗死组性别、年龄、CIMT的关系。结果梗死组ADAMIO基因rs653765位点CC基因型频率显著低于对照组（P=0．0080）、隐性模型CT＋TT基因型频率显著高于对照组（OR：0．54，95％a为0．36—0．81，P=0．0029），T等位基因频率显著高于对照组（OR=1．95，95％CI为1．37～2．79，P=0．0002）；两组ADAMl0基因rs514049位点的基因型频率和等位基因频率无显著差异（P〉0．05）。携带ADAMIO基因rs653765位点T等位基因的男性发生腔隙性脑梗死的风险显著升高（OR=1．51，95％CI为1．00—2．28，P=0．048），而≥70岁人群中携带cT基因型或T等位基因者发生腔隙性脑梗死的风险显著升高（OR=1．69，95％CI为1．00—2．85，P=0．046）；ADAMl0基因rs653765和rs514049位点的多态性与腔隙性脑梗死患者cI．MT无明显相关。结论ADAMl0基因rs653765位点T等位基因可能与腔隙性脑梗死的发病有关。

Association between ADAM10 promoter polymorphisms and risk of lacunar infarction

Objective To observe the changes of a disintegrin and metalloproteinase 10 （ADAM10） promoter polymer- phisms and to investigate their correlations with the risk of lacunar infarction （LI）. Methods Totally 173 patients （infarction group） with LI and 297 controls （control group） from the Department of Neurology of the Affiliated Hospital of Guangdong Medi- cal College were selected. Multiplex Snapshot was used to determine the genotype and allele frequencies of rs653765 and rs514049 polymorphisms of the ADAM10 gene. B-color Doppler ultrasonography was used to determine the carotid artery intima- media thickness （CIMT）. The relationships between polymorphisms of the two sites and sex, age, CIMT in the infarction group were analyzed, l~Jmults The frequency of the ADAMI0 r-~=x53765 CC genotype carriers was significandy lower in the infarction group as compared with that of the control group （P =0. 008 0）, but in a recessive model, the frequency of CT ＋ TI＂ genotype was significantly higher （0R=0.54, 95%CI0.36-0.81, P=O.（X）2 9）, and the ADAM10 rs653765 T allele was also signifi- cantly higher （ OR = 1.95, 95% CI 1.37 - 2.79, P = 0.000 2）. The genotype and allele frequencies of ADAM10 rs514049 had no significantly difference between the infarction group and the control group （ P 〉 0. 05 ）. Further stratification analysis on gender and age revealed that men carrying the ADAMIO rs653765 T allele conferred a higher risk of LI （ OR = 1.51, 95% C/l. IX） - 2. 28, P = 0. 048）, and the individuals over 70 years old with the ADAM10 rs653765 CT genotype or T allele might run a higher risk of LI （OR = 1.69, 95% CI 1.00- 2. 85, P = 0. 046）. The genotype and allele frequencies of rs514049 were not statistically associated with LI, even after taking into account the patients＇gender and age. Conclusion The present study suggests that the ADAMI0 rs653765 T allele may be associated with the etiology of lacunar infarction.