MTHFR和PCSK9基因与新疆地区维吾尔族及哈萨克族人群心血管病遗传易感性  

MTHFR, PCSK9 gene and genetic susceptibility to cardiovascular diseases in Uygur and Kazak populations in Xinjiang

作　　者：崔蕴文[1] 罗健[1] 刘成[1] 孟岩[1] 赵樱 张新 梁杰[1] CUI Yunwen;LUO Jian;LIU Cheng;MENG Yan;ZHAO Ying;ZHANG Xin;LIANG Jie(The First Affiliated Hospital of Xinjiang Medical University,Urumqi,830000,China)

机构地区：[1]新疆医科大学第一附属医院,乌鲁木齐830000

出　　处：《临床心血管病杂志》2023年第1期34-39,共6页Journal of Clinical Cardiology

基　　金：新疆维吾尔自治区自然科学基金(No:2019D01C320)。

摘　　要：目的:探讨MTHFR和PCSK9基因与新疆地区维吾尔族及哈萨克族人群心血管病遗传易感性的相关性。方法:选取中国新疆维吾尔族和哈萨克族心血管疾病患者各652例,以及民族、年龄、性别和地域匹配的健康体检者各652例,PCR扩增N5,N10-亚甲基四氢叶酸还原酶(MTHFR)C677T及前蛋白转化酶枯草溶菌素-9(PCSK9)基因rs505151(E670G)和rs11591147(R46L)多态性。结果:维吾尔族和哈萨克族群体中,冠心病患者的TT突变频率均显著高于对照组(均P<0.01)。维吾尔族和哈萨克族群体中PCSK9 E670G AA、AG和GG基因型的频率与对照组相比均差异有统计学意义(均P<0.05)。哈萨克族群体中,G等位基因频率在冠心病组显著高于对照组(P<0.05)。结论:MTHFR C677T与PCSK9 E670G基因多态性与新疆地区维吾尔族及哈萨克族人群心血管病发生密切相关。Objective: To investigate the correlation between N5, N10-methylenetetrahydrofolate reductase(MTHFR) and preprotein invertase subtilisin/kexin type 9(PCSK9) genes and genetic susceptibility to cardiovascular diseases in Uygur and Kazak populations in Xinjiang. Methods: Six hundred and fifty-two Uygur and 652 Kazakh patients with cardiovascular diseases in Xinjiang, China, and 652 healthy people matched by nationality, age, sex, and region were selected for PCR amplification of MTHFR C677T and PCSK9 rs505151(E670G) and rs11591147(R46 L) polymorphisms. Results: In both Uygur and Kazakh populations, the frequency of TT mutation in patients with coronary heart disease was significantly higher than that in controls(both P<0.01). The frequencies of PCSK9 E670G AA, AG, and GG genotypes in Uygur and Kazakh populations were significantly different from those in controls(all P<0.05). In the Kazakh population, the frequency of G allele in the coronary heart disease group was significantly higher than that in the control group(P<0.05). Conclusion: MTHFR C677T and PCSK9 E670G gene polymorphisms are closely related to cardiovascular disease occurrence in Uygur and Kazakh populations in Xinjiang.

关 键 词：亚甲基四氢叶酸还原酶 前蛋白转化酶枯草溶菌素-9 维吾尔族 哈萨克族 基因多态性 

分 类 号：R587.2[医药卫生—内分泌]