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基因变异和 对急性冠状动脉综合征发病率和维生素 D 血清水平的影响。

Contribution of and genetic variations to the incidence of acute coronary syndrome and to vitamin D serum level.

机构信息

Clinical Biochemistry Unit, Faculty of Pharmacy and Biotechnology, German University in Cairo, Fifth Settlement, Cairo, Egypt, 11432.

Biochemistry Department, Faculty of Pharmacy, October University for Modern Sciences and Arts, 6th of October, Giza, Egypt, 12566.

出版信息

Can J Physiol Pharmacol. 2019 Dec;97(12):1152-1158. doi: 10.1139/cjpp-2019-0258. Epub 2019 Aug 9.

DOI:10.1139/cjpp-2019-0258
PMID:31398293
Abstract

Cardiovascular diseases remain a major public health burden worldwide. It was reported that vitamin D protects the cardiovascular system through several mechanisms mainly by hindering atherosclerosis development. Genetic variations in vitamin D metabolic pathway were found to affect vitamin D levels. This study aimed at investigating the association between single nucleotide polymorphisms in genes involved in vitamin D metabolism, and ; 25-hydroxyvitamin D (25(OH)D) levels; and susceptibility to acute coronary syndrome (ACS). One hundred and eighty-five patients and 138 healthy controls were recruited. rs2762939 was genotyped using fast real-time PCR, while rs4809960 and rs703842 were genotyped using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP). 25(OH)D and 25(OH)D levels were measured using ultra-performance liquid chromatography tandem mass spectrum. Vitamin D level was significantly lower in patients than controls ( < 0.05). The genotype of rs2762939 was significantly associated with the risk of ACS development, but not correlated to the vitamin D level. rs4809960 and rs703842 genetic variations were not associated with ACS nor with 25(OH)D level. The genetic variant rs2762939 of is remarkably associated with ACS. Meanwhile, the variants rs4809960 and rs703842 are not associated with ACS incidence.

摘要

心血管疾病仍然是全球主要的公共卫生负担。据报道,维生素 D 通过几种机制保护心血管系统,主要是通过阻止动脉粥样硬化的发展。维生素 D 代谢途径中的遗传变异被发现会影响维生素 D 水平。本研究旨在探讨参与维生素 D 代谢的基因中的单核苷酸多态性与 25-羟维生素 D (25(OH)D)水平以及急性冠状动脉综合征 (ACS)易感性之间的关系。招募了 185 名患者和 138 名健康对照者。使用快速实时 PCR 对 rs2762939 进行基因分型,而 rs4809960 和 rs703842 则使用聚合酶链反应(PCR)后限制性片段长度多态性(PCR-RFLP)进行基因分型。使用超高效液相色谱串联质谱法测量 25(OH)D 和 25(OH)D 水平。患者的维生素 D 水平明显低于对照组(<0.05)。rs2762939 的 基因型与 ACS 发病风险显著相关,但与维生素 D 水平无关。rs4809960 和 rs703842 的遗传变异与 ACS 或 25(OH)D 水平均无相关性。 的遗传变异 rs2762939 与 ACS 显著相关。同时,rs4809960 和 rs703842 变体与 ACS 发生率无关。

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