Fahrioğlu Umut, Ergören Mahmut Çerkez
Faculty of Medicine, Department of Medical Biology, Near East University, Near East Boulevard, Nicosia, Cyprus.
Biochem Genet. 2018 Jun;56(3):176-187. doi: 10.1007/s10528-017-9836-3. Epub 2017 Dec 20.
Apolipoprotein A5 (APOA5 or APO A-V) polymorphisms have long been reported to be associated with cardiovascular disease and plasma lipid levels. The present study was undertaken to investigate the relationship between the rs662799, rs3135507, and rs2075291 with biochemical parameters in the Turkish Cypriot population. A total of 100 Turkish Cypriot volunteer subjects (53 female and 47 male), with a mean age of 40.8, participated in the study. A basic biochemical analysis, including serum glucose, total serum cholesterol, HDL-C, LDL-C, and triglycerides, was performed for each participant. Genotyping for the APOA5 three polymorphisms was performed by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Biochemical parameters except the low-density lipoprotein cholesterol (LDL-C) were all within the normal limits. LDL-C was found to be slightly elevated in participants according to WHO guidelines. With respect to the genotype and allele distributions of APOA5 rs662799 T>C polymorphism, TT genotypes are more frequent (62%) in the population and the frequency of T allele is 0.78. The TT genotype for APOA5 rs2075291 G
长期以来，载脂蛋白A5（APOA5或APO A-V）多态性一直被报道与心血管疾病和血脂水平有关。本研究旨在调查rs662799、rs3135507和rs2075291与土族塞人人群生化参数之间的关系。共有100名土族塞人志愿者（53名女性和47名男性）参与了该研究，平均年龄为40.8岁。对每位参与者进行了基本生化分析，包括血糖、总胆固醇、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）和甘油三酯。通过聚合酶链反应随后进行限制性片段长度多态性分析对APOA5三个多态性进行基因分型。除低密度脂蛋白胆固醇（LDL-C）外，其他生化参数均在正常范围内。根据世界卫生组织指南，参与者的LDL-C略有升高。关于APOA5 rs662799 T>C多态性的基因型和等位基因分布，TT基因型在人群中更为常见（62%），T等位基因频率为0.78。在研究人群中未观察到APOA5 rs2075291 G<T的TT基因型。祖先GG是研究人群中唯一存在的基因型。APOA5 rs31中A等位基因的次要等位基因频率为0.125507 G>A变体。在研究的APOA5两个多态性（rs662799和rs3135507）与葡萄糖、总胆固醇和甘油三酯的生化成分之间未观察到关联。另一方面，发现高密度脂蛋白胆固醇（HDL-C）和低密度脂蛋白胆固醇（LDL-C）临床参数与APOA5 rs662799 CC和rs3135507 AA基因型之间存在强烈的统计学关联（p分别为0.014和0.017）。APOA5多态性rs662799和rs3135507，分别具有CC和AA基因型，与土族塞人人群中高密度脂蛋白胆固醇（HDL-C）和低密度脂蛋白胆固醇（LDL-C）水平升高有关。
