Saleh Amany A, Tayel Safaa I, Shalaby Awny Gamal, El Naidany Sherin Sobhy
Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Menoufia University, Shebin el-Kom, Egypt.
Cardiology Department, Faculty of Medicine, Menoufia University, Shebin el-Kom, Egypt.
Appl Clin Genet. 2020 Dec 18;13:241-252. doi: 10.2147/TACG.S282843. eCollection 2020.
Genetic factors are vital participants in the development and progression of myocardial infarction (MI). Adiponectin has been assumed to have a protective role in MI and adiponectin receptors variants could be a determinant for atherosclerosis. We aimed to evaluate the prevalence of (rs2241766) and (rs10773989) polymorphisms and their association with mRNA levels and circulatory adiponectin levels in patients with MI.
A total of 220 participants were classified into two groups: group 1 included 120 patients with MI, and group 2 involved 100 healthy participants as controls. Genotyping of (rs2241766) and (rs10773989) polymorphisms were analyzed using an allele discrimination assay with real-time PCR and their relative expression or mRNA levels were determined by real-time PCR. Serum adiponectin level was determined using an ELISA technique.
The rs2241766 GG genotype and G allele and the CC genotype and C allele of rs10773989 were significantly prevalent in patients with MI and associated with increased risk of MI. We detected a marked reduction in serum adiponectin, ADIPOQ and ADIPOR2 mRNA levels in patients than control. The GG genotype of rs2241766 and the CC genotype of rs10773989 had the lowest levels of their mRNA and adiponectin level in both patients and controls.
Adiponectin gene and receptor variants are potentially related to MI risk; furthermore, their expressions were markedly depressed in MI which suggests their use as potential biomarkers for MI.
遗传因素是心肌梗死（MI）发生和发展的重要参与者。脂联素被认为在心肌梗死中具有保护作用，脂联素受体变体可能是动脉粥样硬化的一个决定因素。我们旨在评估MI患者中脂联素基因（rs2241766）和脂联素受体2基因（rs10773989）多态性的患病率及其与mRNA水平和循环脂联素水平的关联。
总共220名参与者被分为两组：第1组包括120名MI患者，第2组包括100名健康参与者作为对照。使用实时PCR的等位基因鉴别分析方法分析脂联素基因（rs2241766）和脂联素受体2基因（rs10773989）多态性，并通过实时PCR测定它们的相对表达或mRNA水平。使用ELISA技术测定血清脂联素水平。
MI患者中脂联素基因rs2241766的GG基因型和G等位基因以及脂联素受体2基因rs10773989的CC基因型和C等位基因显著流行，并且与MI风险增加相关。我们检测到患者血清脂联素、脂联素基因（ADIPOQ）和脂联素受体2基因（ADIPOR2）mRNA水平比对照组显著降低。在患者和对照组中，脂联素基因rs2241766的GG基因型和脂联素受体2基因rs10773989的CC基因型的mRNA水平和脂联素水平最低。
脂联素基因和受体变体可能与MI风险相关；此外，它们在MI中的表达明显降低，这表明它们可作为MI的潜在生物标志物。
