İzmirli Müzeyyen, Göktekin Ömer, Bacaksız Ahmet, Uysal Ömer, Kılıç Ülkan
Department of Medical Biology, Faculty of Medicine, Bezmialem Vakıf University; İstanbul-Turkey; Department of Medical Biology, Faculty of Medicine, Mustafa Kemal University; Hatay-Turkey.
Anatol J Cardiol. 2015 Feb;15(2):103-6. doi: 10.5152/akd.2014.5214. Epub 2014 Apr 8.
Cardiovascular disease (CVD) is the leading cause of death in Europe. One of the candidate molecule affecting epigenetic mechanisms of CVD is the SIRT1, a subclass of sirtuins, is located on the long arm of chromosome 10 (10q21.3). Particularly, the relation between 2827 A>G polymorphism of the SIRT1 positioned on exon 2, leading to conversion of histidine to arginine, and the formation of CVD is not known yet. One of the activator of SIRT1, resveratrol, is also known as a cardioprotective molecule. On the other hand, the parameters including exercise, occupation and age affect CVD. The aim of the present study was to investigate the effect of the rs144124002 (2827 A>G) single nucleotide polymorphisms (SNP) of SIRT1 and exercise-occupation-age parameters on CVD.
SNP of SIRT1 were analyzed using DNA isolation, the polymerase chain reaction (PCR) and restriction fragment length polymorphism. To do so, large cohorts of CVD patients (n=293) and healthy controls (n=117) who directed Cardiology Department of Bezmialem Vakıf University, Bezmialem Vakıf University Hospital were used.
In this study, when we assessed CVD and control groups about 2827 A>G polymorphism, all individuals were determined as homozygous genotype. We found a positive effect between the modifications of resveratrol, exercise, age and occupation and CVD (OR=0.17; CI 95%, 0.1-0.2; p ≤ 0.001).
This is the first study demonstrating the correlation between the SIRT1 rs144124002 polymorphism and CVD in Turkish population.
心血管疾病（CVD）是欧洲的主要死因。影响CVD表观遗传机制的候选分子之一是SIRT1，它是沉默调节蛋白的一个亚类，位于10号染色体长臂（10q21.3）上。特别是，位于外显子2上的SIRT1的2827 A>G多态性导致组氨酸转变为精氨酸，其与CVD形成之间的关系尚不清楚。SIRT1的激活剂之一白藜芦醇，也被认为是一种心脏保护分子。另一方面，包括运动、职业和年龄在内的参数会影响CVD。本研究的目的是调查SIRT1的rs144124002（2827 A>G）单核苷酸多态性（SNP）以及运动 - 职业 - 年龄参数对CVD的影响。
使用DNA分离、聚合酶链反应（PCR）和限制性片段长度多态性分析SIRT1的SNP。为此，使用了贝兹米阿勒姆瓦基夫大学医院心脏病科的大量CVD患者队列（n = 293）和健康对照者队列（n = 117）。
在本研究中，当我们评估CVD组和对照组的2827 A>G多态性时，所有个体均被确定为纯合基因型。我们发现白藜芦醇、运动、年龄和职业的改变与CVD之间存在正相关（OR = 0.17；95%置信区间，0.1 - 0.2；p≤0.001）。
这是第一项证明土耳其人群中SIRT1 rs144124002多态性与CVD之间存在相关性的研究。
