Aparna R R, Rajarajeswari D, Prasad M, Krishna T Sharmila, Ramalingam K, Viswakumar R, Fathima Nusrath, Khan Aleem Ahmed
Department of Biochemistry, Narayana Medical College and Hospital, Chinthareddypalem, Nellore, Andhra Pradesh 524003 India.
Central Laboratory for Stem Cell Research and Translational Medicine, Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad, Telangana 500058 India.
Indian J Clin Biochem. 2023 Oct;38(4):495-504. doi: 10.1007/s12291-022-01104-1. Epub 2022 Dec 30.
Myocardial infarction (MI) remains the most common cause of cardiac failure and continuous increasing rate of morbidity and mortality. We aimed to investigate the association of estrogen receptor-α (ESR1) gene polymorphism c454-397T>C with serum estradiol levels and dyslipidemia in 220 patients with MI in the age range of 35-70 years of both the genders. Genotyping study was performed through PCR-RFLP method using PvuII restriction enzyme. Serum estradiol level was estimated using the Access Sensitive Estradiol assay kit. Men patients had 43.2% increased risk for TC heterozygote in co-dominant (OR 10.66) and over-dominant models (OR 8.30), while women patients had 50% increased risk in co-dominant (OR 16.57) and over-dominant (OR 14.04) models. Variant C allele showed 25% increased risk of MI for in men (OR 2.24; CI 1.49-3.36; = 0.0001), and 24% increased risk in women (OR 3.35; CI 1.95-5.76; = 0.0001). Men patients had significantly increased serum estradiol levels compared to controls (25.28 ± 5.80 vs 17.04 ± 2.01; < 0.0001). Significant difference was observed in estradiol levels between men and women patients (25.28 ± 5.80 vs 17.56 ± 3.32; < 0.0001). Furthermore, significantly increased estradiol level was found in men patients compared to women for TT (25.46 ± 5.91 vs 16.71 ± 4.46; < 0.0001), and TC genotypes (25.47 ± 5.91 vs 17.70 ± 2.86; < 0.0001). Significantly increased HDL levels were observed in men patients with TC (43.10 ± 8.18 vs 38.91 ± 7.84; < 0.01) and CC (47.16 ± 8.09 vs 38.91 ± 7.84; < 0.001) genotypes compared to TT genotype. These findings suggest that TC heterozygote plays an important role as a genetic risk factor during MI pathogenesis in the South Indian population.
The online version contains supplementary material available at 10.1007/s12291-022-01104-1.
心肌梗死（MI）仍然是心力衰竭最常见的原因，其发病率和死亡率持续上升。我们旨在研究雌激素受体-α（ESR1）基因多态性c454-397T>C与220例年龄在35至70岁之间的MI患者（男女均有）的血清雌二醇水平和血脂异常之间的关联。使用PvuII限制性内切酶通过PCR-RFLP方法进行基因分型研究。使用Access敏感雌二醇检测试剂盒估算血清雌二醇水平。男性患者在共显性（OR 10.66）和超显性模型（OR 8.30）中TC杂合子的风险增加43.2%，而女性患者在共显性（OR 16.57）和超显性（OR 14.04）模型中的风险增加50%。变异C等位基因在男性中显示MI风险增加25%（OR 2.24；CI 1.49 - 3.36；P = 0.0001），在女性中风险增加24%（OR 3.35；CI 1.95 - 5.76；P = 0.0001）。与对照组相比，男性患者的血清雌二醇水平显著升高（25.28±5.80 vs 17.04±2.01；P < 0.0001）。男性和女性患者之间的雌二醇水平存在显著差异（25.28±5.80 vs 17.56±3.32；P < 0.0001）。此外，发现男性患者中TT（25.46±5.91 vs 16.71±4.46；P < 0.0001）和TC基因型（25.47±5.91 vs 17.70±2.86；P < 0.0001）的雌二醇水平明显高于女性。与TT基因型相比，TC（43.10±8.18 vs 38.91±7.84；P < 0.01）和CC（47.16±8.09 vs 38.91±7.84；P < 0.001）基因型的男性患者HDL水平显著升高。这些发现表明，在南印度人群中，TC杂合子在MI发病机制中作为遗传风险因素起着重要作用。
在线版本包含可在10.1007/s12291-022-01104-1获取的补充材料。
