Becer E, Ergoren M C
Department of Biochemistry, Faculty of Pharmacy, Near East University, Nicosia, Cyprus.
DESAM Research Institute, Near East University, Nicosia, Cyprus.
Balkan J Med Genet. 2021 Jul 27;24(1):27-34. doi: 10.2478/bjmg-2021-0011. eCollection 2021 Jun.
Obesity is as a global health problem due to its interaction with complex chronic disorders such as cardiovascular disorders, type 2 diabetes mellitus (T2DM) and cancer. Despite the fact that pathogenesis of obesity is not yet clearly understood, it is associated with a combination of psychological, environmental and various genetic factors. Here, employing a case-control design, we aimed to examine the effects of the c.152C>T (p.Arg51Gln) (rs34911341) and c.214G>T (p.Leu72Met) (rs696217) markers on susceptibility to obesity in a Turkish-Cypriot population, as well as to evaluate whether these markers affect biochemical parameters and show their putative functional consequences. This study involved 211 Turkish-Cypriot subjects (106 obese and 95 non obese). Genotyping for the gene polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Our results indicate that the Leu72Met polymorphism was found to be significantly higher in obese patients, with respect to genotypic ( = 0.0012) and allelic ( = 0.0005) frequencies. Strikingly, the rs696217 GT genotype (heterozygous) had significantly lower serum high-density lipoprotein cholesterol (HDL-C) ( = 0.015) than GG (wild type) genotypes. Overall, Leu72Met susceptibility variant may be considered as risk and crucial marker for both obesity and cholesterol metabolism in the community of Turkish-Cypriots. Thus, the dual effect of the gene Leu72Met variant may be used for clinical diagnosis.
肥胖因其与心血管疾病、2型糖尿病（T2DM）和癌症等复杂慢性疾病相互作用而成为全球性健康问题。尽管肥胖的发病机制尚未完全明确，但它与心理、环境和多种遗传因素有关。在此，我们采用病例对照设计，旨在研究c.152C>T（p.Arg51Gln）（rs34911341）和c.214G>T（p.Leu72Met）（rs696217）标记对土族塞浦路斯人群肥胖易感性的影响，并评估这些标记是否影响生化参数并显示其假定的功能后果。本研究纳入了211名土族塞浦路斯受试者（106名肥胖者和95名非肥胖者）。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析对基因多态性进行基因分型。我们的结果表明，就基因型（P = 0.0012）和等位基因（P = 0.0005）频率而言，Leu72Met多态性在肥胖患者中显著更高。令人惊讶的是，rs696217 GT基因型（杂合子）的血清高密度脂蛋白胆固醇（HDL-C）（P = 0.015）显著低于GG（野生型）基因型。总体而言，Leu72Met易感性变异体可被视为土族塞浦路斯人群肥胖和胆固醇代谢的风险及关键标志物。因此，该基因Leu72Met变异体的双重作用可用于临床诊断。
