mTOR基因多态性与冠心病遗传易感的关联研究

Association between mTOR gene polymorphism and genetic susceptibility to coronary heart disease

[目的]探讨哺乳动物雷帕霉素靶蛋白(mTOR)基因多态性与华南地区汉族人群冠心病遗传易感的相关性,为冠心病的早期预防与干预提供新的思路。[方法]利用聚合酶链反应-连接酶检测反应(PCR-LDR)技术对804例冠心病患者和979例对照个体的mTOR基因多态位点进行分型,检测mTOR基因的两个多态性位点rs2295079和rs1883965的基因型,用非条件Logistic回归分析统计各多态位点与冠心病易感的相关性。[结果]rs2295079和rs1883965的等位基因、基因型频率在冠心病组与对照组中的分布均无统计学差异(P>0.05);这两个位点构建的单体型rs2295079C-rs1883965A在冠心病组与对照组中的分布频率分别是8.3%、6.5%,冠心病组显著高于对照组;携带rs2295079C-rs1883965A单体型个体罹患冠心病的风险显著增加(OR=1.29,P=0.047),该单体型在年龄≤60岁的人群中罹患冠心病的风险更为显著(OR=1.73,P=0.009)。[结论]mTOR基因的单体型rs2295079C-rs1883965A与冠心病遗传易感密切相关,且在年龄≤60岁的人群中更加明显,提示该单体型可能是增加华南地区汉族人群冠心病发病风险的重要危险因素。

Aim To explore the association between mammalian target of rapamycin(mTOR)gene polymorphism and genetic susceptibility to coronary heart disease in Han population in South China,and provide new ideas for early prevention and intervention of coronary heart disease.Methods Polymerase chain reaction-ligase detection reaction(PCR-LDR)technology was used to classify mTOR gene polymorphisms in 804 patients with coronary heart disease and 979 control subjects.The genotypes of rs2295079 and rs1883965 of mTOR gene were detected.The association between each polymorphic site and susceptibility to coronary heart disease was analyzed by unconditional Logistic regression.Results There was no statistical difference in the distribution of alleles and genotype frequencies of rs2295079 and rs1883965 between the coronary heart disease group and the control group(P>0.05);the distribution frequencies of the haplotype rs2295079C-rs1883965A constructed by these two loci in the coronary heart disease group and the control group were 8.3%and 6.5%,respectively,and the coronary heart disease group was significantly higher than the control group;individuals carrying rs2295079C-rs1883965A haplotype had a significantly increased risk of developing coronary heart disease(OR=1.29,P=0.047),this haplotype had a more significant risk of developing coronary heart disease in people aged≤60 years old(OR=1.73,P=0.009).Conclusion The haplotype rs2295079C-rs1883965A of the mTOR gene is closely related to the genetic susceptibility to coronary heart disease,and is more obvious in the population aged≤60 years old,suggesting that this haplotype may be an important rick factor in increasing the risk of coronary heart disease in the Han population in South China.