PSMA6基因rs1048990位点多态性与动脉粥样硬化性脑梗死的相关性分析

The correlative analysis of PSMA6 rs1048990 single-nucleotide polymorphism and artery atherosclerosis cerebral infarction

目的:研究陕西汉族人群中蛋白酶体α6亚单位(PSMA6)基因rs1048990(-8C/G)位点的多态性与动脉粥样硬化性脑梗死的关系。方法:采用病例对照研究,选择2012年1月至2013年12月在西安医学院第一附属医院神经内科住院的162例动脉粥样硬化性脑梗死患者(病例组)和同期159例健康体检者(对照组)。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测PSMA6基因rs1048990位点单核苷酸多态性,并分析其基因型及等位基因频率在脑梗死患者及正常人群中的分布特点。结果:与对照组比,病例组GG基因型频率差异无统计学意义(P=0.054),G等位基因频率差异亦无统计学意义(P=0.05)。分别依据有无高血压和糖尿病病史进行分层分析,病例组各基因型及等位基因频率间差异均无统计学意义(均P>0.05),对照组亦如此。logistics回归分析发现,PSMA6基因rs1048990位点GG基因型在病例组和对照组间差异无统计学意义(P=0.059)。结论:PSMA6基因rs1048990位点可能与动脉粥样硬化性脑梗死发病不相关,但P值接近有统计学意义,值得进一步研究。

Objective： To investigate the correlation between rs1048990（-8C/G） polymorphism of pro-teasome subunit alpha type 6（PSMA6） gene and artery atherosclerosis cerebral infarction in Han population of the Shanxi province in China. Methods： By using a case-control method, 162 patients with artery athero- sclerosis cerebral infarction （the case group） and 159 healthy controls over the same period （the control group） were selected in the study. The patients were in hospital of the department of neurology in the Affiliated Hos- pital of Xi＇an Medical College from January 2012 to December 2013. The single nucleotide polymorphism of rs1048990 of P SMA6 gene was identified by the polymerase chain reaction （PCR） and restriction fragment length polymorphism（RFLP）, and genotype and allele frequency distributions in cerebral infarction patients and healthy controls were analyzed. Results： Compared with the control group, the difference of the frequency of GG genetype in the the case group wasn＇t significant （P=0.054）, the difference of the frequency of G allele wasn＇t significant, either （P=-0.05）. After stratified by suffering from high blood pressure and diabetes, respectively, we didn＇t find significant differences among all genotypes and alleles in the case group （all P〉0.05）; the same result had been found in the control group, too. After adjustment for known cerebral vascular risk factors by logistic regression analysis, the GG genotype of rs1048990 revealed no statistical significance between the case group and the control group （P=-0.059）. Conclusion： The rs1048990 of PSMA6 gene mayn＇t be associated with the ar- tery atherosclerosis cerebral infarction. But the P value approximate statistical significance, the single nucleotide polymorphism is worth further researches.