E670G PCSK9多态性在HeFH中的应用冠心病合并糖尿病:个性化治疗的桥梁是否触手可及?

Rano Alieva, Aleksandr Shek, Alisher Abdullaev, Khurshid Fozilov, Shovkat Khoshimov, Guzal Abdullaeva, Dariya Zakirova, Rano Kurbanova, Lilia Kan, Andrey Kim
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Results There were twice more G alleles in group I (13, 11.4%) than in group II (17, 6.0%), and thrice more (1, 3.0%) than in the healthy control group; nevertheless, these differences weren’t statistically significant. Simultaneously, PCSK9 levels were higher in HeFH patients (P<0.05) compared to non-HeFH patients not taking statins (n=63). T2DM was equally represented in groups I and II (31.6% vs. 33.3%). But carriers of AG+GG genotypes in group I had a higher chance of having a history of T2DM (RR 4.18; 95%CI 2.19-8.0; P<0.001), myocardial infarction (RR 1.79; 95%CI 1.18-2.73; P<0.05), and revascularization (RR 12.6; 95%CI 4.06-38.8; P<0.01), than AA carriers. T2DM was also more common among G allele carriers (RR 1.85; 95% CI 1.11-3.06; P<0.05) in patients with non-HeFH. 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引用次数: 0

摘要

目的探讨PCSK9 E670G基因多态性在伴有2型糖尿病(T2DM)的冠心病(CAD)和杂合子家族性高胆固醇血症(HeFH)患者中的分布及PCSK9水平。方法201例慢性CAD患者,包括合并HeFH患者(n=57,组I)和未合并HeFH患者(n=144,组II),采用DLCN诊断HeFH。采用PCR-RFLP方法对PCSK9 E670G (rs505151)多态性进行遗传分型。在患者和对照组中,基因型频率均符合Hardy-Weinberg平衡分布(P>0.05)。结果ⅰ组G等位基因数量(13,11.4%)比ⅱ组(17,6.0%)多2倍,比健康对照组(1,3.0%)多3倍;然而,这些差异在统计学上并不显著。同时,与未服用他汀类药物的非HeFH患者(n=63)相比,HeFH患者的PCSK9水平较高(P<0.05)。T2DM在I组和II组中的比例相等(31.6%对33.3%)。而ⅰ组AG+GG基因型携带者有T2DM病史的几率更高(RR 4.18;95%可信区间2.19 - -8.0;P<0.001),心肌梗死(RR 1.79;95%可信区间1.18 - -2.73;P<0.05),血运重建术(RR 12.6;95%可信区间4.06 - -38.8;P<0.01)。T2DM在G等位基因携带者中也更为常见(RR 1.85;95% ci 1.11-3.06;非hefh患者P<0.05)。结论乌兹别克斯坦人群中伴有HeFH和非HeFH的冠心病患者的T2DM与PCSK9 E670G基因多态性的“功能获得性”G等位基因的存在显著相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
E670G PCSK9 polymorphism in HeFH & CAD with diabetes: is the bridge to personalized therapy within reach?
Objective To assess the distribution of PCSK9 E670G genetic polymorphism and PCSK9 levels in patients with Coronary Artery Disease (CAD) and Heterozygous Familial Hypercholesterolemia (HeFH), based on the presence of type 2 Diabetes Mellitus (T2DM). Methods The study included 201 patients with chronic CAD, including those with HeFH (n=57, group I) and without it (n=144, group II). DLCN was used to diagnose HeFH. The PCSK9 E670G (rs505151) polymorphism was genetically typed using the PCR-RFLP procedure. In both the patient and control groups, the genotype frequency matched the Hardy-Weinberg equilibrium distribution (P&gt;0.05). Results There were twice more G alleles in group I (13, 11.4%) than in group II (17, 6.0%), and thrice more (1, 3.0%) than in the healthy control group; nevertheless, these differences weren’t statistically significant. Simultaneously, PCSK9 levels were higher in HeFH patients (P&lt;0.05) compared to non-HeFH patients not taking statins (n=63). T2DM was equally represented in groups I and II (31.6% vs. 33.3%). But carriers of AG+GG genotypes in group I had a higher chance of having a history of T2DM (RR 4.18; 95%CI 2.19-8.0; P&lt;0.001), myocardial infarction (RR 1.79; 95%CI 1.18-2.73; P&lt;0.05), and revascularization (RR 12.6; 95%CI 4.06-38.8; P&lt;0.01), than AA carriers. T2DM was also more common among G allele carriers (RR 1.85; 95% CI 1.11-3.06; P&lt;0.05) in patients with non-HeFH. Conclusion T2DM in patients with CAD, both with HeFH and non-HeFH, in the Uzbek population was significantly more often associated with the presence of the “gain-of-function” G allele of the PCSK9 E670G genetic polymorphism.
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