含钾通道四聚化结构域15基因多态性与冠心病的关系及意义

目的：探讨含钾通道四聚化结构域15（KCTD15）基因单核苷酸多态性（SNP）位点rs11084753与冠心病的遗传易感性的关系。方法确诊的冠心病患者426例（男216例，女210例）为病例组，非冠心病患者及正常体检者436例（男224例，女212例）作为对照组，利用聚合酶链式反应（ PCR）分析技术及DNA直接测序技术，对2组EDTA抗凝血KCTD15基因rs11084753（A/G）多态位点进行分型，按该位点等位基因A和G的出现情况将基因型分为AA、AG、 GG三种类型。采用因素回归分析统计该多态位点与冠心病易感性的关系。检测所有研究对象的血脂水平。结果病例组血脂指标中TC、TG、LDL-C与对照组比较明显升高，而HDL-C则明显低于对照组；病例组患者吸烟、饮酒及阳性家族史的比例均高于对照组（ P 均＜0．05）。 AA、AG、GG 基因型在病例组中的分布频率分别为52．4％、32．6％和15．0％，在对照组中分别是76．1％、18．4％和5．5％，2组基因型频率分布差异有统计学意义（χ2＝8．174， P ＝0．0098）。多因素分析显示，携带rs11084753（A/G）多态位点G变异等位基因与冠心病的遗传易感性有明显相关关系（OR＝5．94，95％CI＝3．02～22．31， P ＜0．01）。结论KCTD15基因rs11084753（A/G）多态位点与河北地区汉族人冠心病遗传易感有关。

Significance KCTD15 gene polymorphism and its correlation with genetic susceptibility to coronary heart disease

bjective To explore the significance of rs 11084753 site polymorphism of potassium channel tetramerization domain containing 15 （KCTD15） gene and its relationship with genetic susceptibility to coronary heart disease （CHD）.Methods The 426 patients with CHD including 216 males and 210 females were enrolled as case group ,and the other 436 healthy subjects were enrolled as control group .The rs11084753 site polymorphism of KCTD15 was detected by PCR-RFLP and DNA sequencing technology .All the tested subjects were divided into 3 groups （AA,AG,GG） according to the genotypes of rs11084753 site.The levels of serum lipids in both groups were detected simultaneously.The stepwise multiple linear regression analysis was used to analyze the correlation between rs 11084753 site polymorphism of KCTD15 gene and genetic susceptibility to coronary heart disease .Results As compared with those in control group ,the serum levels of TC,TG, LDL-C were significantly increased in case group ,however,the levels of HDL-C were obviously decreased （ P ＆lt;0.05）.The proportion of smoking,drinking,family history in case group was significantly higher than that of control group （ P ＆lt;0.05）. The distribution frequency of AA,AG,GG genotypes in case group was 52.4%,32.6%,15.0%,respectively,however,which was 76.1%,18.4%,5.5%,respectively in control group,there was a significant difference between two groups （ P ＆lt;0.01）. The stepwise multiple linear regression analysis showed that genotype A /G of rs11084753 site was related to genetic susceptibility to CHD （OR=5.94,95%CI=3.02, P ＆lt;0.01）.Conclusion The rs11084753 site polymorphism （A/G） of KCTD15 gene is related to genetic susceptibility to CHD of Han people in Hebei province .