rs7927113多态性与大动脉粥样硬化性脑卒中易感性研究

Association of rs7927113 polymorphism with the risk of large atherosclerotic stroke

目的研究MALAT1基因rs7927113位点单核苷酸多态性(SNPs)与大动脉粥样硬化性脑卒中(LAAS)发病风险的关系。方法选用SNaPshot技术和DNA测序法检测徐州地区汉族人群180例对照者与180例LAAS病例的rs7927113位点多态性,统计分析两组该位点基因型和等位基因频率。结果MALAT1基因rs7927113位点在病例组与对照组中均存在GG、AG两种基因型,该位点在LAAS组和对照组中的基因型频率分布均符合Hardy-Weinberg遗传平衡定律(P>0.05),进一步的统计分析表明两组rs7927113位点的多态性在男女性别间无统计学意义,且该位点的基因型、等位基因在病例对照组间比较差异无统计学意义(P>0.05)。结论rs7927113位点多态性可能与大动脉粥样硬化性脑卒中遗传易感性无关,在LAAS相关的MALAT1多态性研究时可优先考虑其他位点。

Objective To explore the association between single nucleotide polymorphisms(SNPs)of rs7927113 loci in MALAT1 with the risk of large artery atherosclerotic stroke(LAAS).Methods SNaPshot technology and DNA sequencing method were used to detect the polymorphism of rs7927113 among 180 LAAS patients and 180 controls in Han population in Xuzhou area,and the genotypes with allele frequencies of the two groups were analyzed statistically.Results There were GG and AG genotypes at rs7927113 of MALAT1 gene in both the cases and the controls.The distribution of rs7927113 polymorphism in LAAS and control groups were in HWE(P>0.05).Further statistical analysis showed that there were no statistically significant differences in genotypes and allele frequencies of rs7927113 between different genders(P>0.05),and the differences in distribution of genotype and allele at rs7927113 locus were not statistically significant between the LAAS and control groups(P>0.05).Conclusion The polymorphisms of rs7927113 may not be associated with genetic susceptibility to LAAS,and other loci can be given priority in the study of MALAT1 polymorphisms associated with LAAS.