Aim. The gene encoding the vitamin D receptor (VDR) is considered in many studies to be a good candidate responsible for susceptibility to several diseases such as coronary artery disease (CAD). Epidemiological data show that cardiovascular disease is one of the major health problems in Polish society. Basic studies show that genetic factors play a significant role in the pathogenesis of CAD. We conducted this clinical study to determine if the VDR gene polymorphisms TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) could predispose healthy individuals to an increased risk of premature CAD (P-CAD) incidents. Methods. We genotyped 845 subjects in a cohort consisting of 386 healthy volunteers with a documented P-CAD incident in their first-degree relatives and 459 healthy volunteers without family history (FH) of P-CAD. TaqI, ApaI, and FokI polymorphisms in VDR were genotyped using TaqMan assays and the endpoint genotyping method (qPCR). Statistical analyses were performed using the Power Analysis Software STATISTICA v.13.3. Results. Although no statistical significance was found for TaqI and ApaI genotype frequencies, the AA genotype of FokI polymorphism was significantly more frequent in the study group compared to the control group (24.61% vs. 16.99%). The results of logistic regression analysis suggested a significant association between FokI polymorphism and FH of P-CAD in heathy people under the recessive model (OR: 1.26 (1.07-1.49, )); however, the frequency of VDR haplotypes did not differ significantly between the control and study populations. Conclusions. FokI polymorphism is may be associated with FH of P-CAD. FokI polymorphism may predispose to the development of P-CAD among healthy people over the next years.

中文翻译：

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有早发冠心病家族史的健康个体的 VDR 基因多态性


目的。许多研究认为，编码维生素 D 受体 ( VDR ) 的基因是导致冠状动脉疾病 (CAD) 等多种疾病易感性的良好候选基因。流行病学数据显示，心血管疾病是波兰社会的主要健康问题之一。基础研究表明，遗传因素在CAD的发病机制中发挥着重要作用。我们进行了这项临床研究，以确定VDR基因多态性 TaqI (rs731236)、ApaI (rs7975232) 和 FokI (rs2228570) 是否会增加健康个体过早 CAD (P-CAD) 事件的风险。方法。我们对队列中的 845 名受试者进行了基因分型，该队列由 386 名在其一级亲属中记录有 P-CAD 事件的健康志愿者和 459 名没有 P-CAD 家族史 (FH) 的健康志愿者组成。使用 TaqMan 检测和终点基因分型方法 (qPCR) 对VDR中的 TaqI、ApaI 和 FokI 多态性进行基因分型。使用功率分析软件 STATISTICA v.13.3 进行统计分析。结果。虽然TaqI和ApaI基因型频率没有发现统计学意义，但FokI多态性的AA基因型频率在研究组中显着高于对照组（24.61% vs. 16.99%）。 Logistic回归分析结果表明，在隐性模型下，健康人群中FokI多态性与P-CAD FH之间存在显着相关性（OR：1.26（1.07-1.49、 ）） ；然而， VDR单倍型的频率在对照人群和研究人群之间没有显着差异。结论。 FokI多态性可能与P-CAD的FH有关。 FokI 多态性可能会导致未来几年健康人群中发生 P-CAD。