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研究 KCNQ1 多态性作为土耳其塞浦路斯人心血管疾病的生物标志物,以制定预防医学措施。

Investigation of KCNQ1 polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures.

机构信息

Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, North Cyprus Mersin 10, Turkey.

Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, 16059, Turkey; Uludag University, Faculty of Medicine, Department of Histology and Embryology, Bursa, 16059, Turkey.

出版信息

Int J Biol Macromol. 2019 Mar 1;124:537-540. doi: 10.1016/j.ijbiomac.2018.11.227. Epub 2018 Nov 28.

Abstract

Potassium channels are important in transmitting electrical signals through potassium ions transport. These potassium channels are made from signals encoded by KCNQ1 gene. KCNQ1 polymorphisms were associated with many diseases, including many metabolic and cardiovascular diseases and therefore they can be employed as biomarkers. In this study we aimed to investigate KCNQ1 polymorphisms in the Turkish Cypriot population to reveal the allele frequencies specific for this population and use these polymorphisms as biomarkers to develop preventative medical measures. The genotypes of KCNQ1 polymorphisms (rs231361, rs231359, rs151290, rs2283228, rs2237895, rs2237896) were investigated for the first time in Turkish Cypriot population. The correlation between genotypes of these polymorphisms and plasma lipid levels in this population was also explored. The results of this study showed that there was significant differences of the allele frequencies of between rs2283228 allele of C and rs2237896 (P > 0.05) in Turkish Cypriot population. There was no association between the genotypes of the six polymorphisms and the lipid metabolism. This study is the first genetic epidemiology study that investigated the allelic frequencies of KCNQ1 polymorphisms associated with metabolic syndromes as well as cardiovascular diseases. This study proves to be crucial since the etiologic determinants and molecular pathology of cardiovascular diseases have not yet clearly understood. This study showed that genome wide association studies should be designed for preventative medicine in the Turkish Cypriot population.

摘要

钾通道在通过钾离子转运传递电信号方面很重要。这些钾通道由 KCNQ1 基因编码的信号构成。KCNQ1 多态性与许多疾病有关,包括许多代谢和心血管疾病,因此它们可以作为生物标志物。在这项研究中,我们旨在调查土耳其塞浦路斯人族群中的 KCNQ1 多态性,以揭示该族群特有的等位基因频率,并利用这些多态性作为生物标志物来制定预防医学措施。首次在土耳其塞浦路斯人族群中研究了 KCNQ1 多态性(rs231361、rs231359、rs151290、rs2283228、rs2237895、rs2237896)的基因型。还探讨了这些多态性的基因型与该族群中血浆脂质水平之间的相关性。该研究的结果表明,土耳其塞浦路斯人族群中 rs2283228 等位基因 C 和 rs2237896 的等位基因频率存在显著差异(P > 0.05)。这六个多态性的基因型与脂质代谢之间没有关联。这是第一项研究与代谢综合征和心血管疾病相关的 KCNQ1 多态性等位基因频率的遗传流行病学研究。由于心血管疾病的病因决定因素和分子病理学尚未清楚,因此这项研究非常重要。这项研究表明,应该为土耳其塞浦路斯人族群设计全基因组关联研究以进行预防医学。

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