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科威特人群中rs326与体重指数的基因关联。

Genetic association of rs326 with BMI among the Kuwaiti population.

作者信息

Malek Sara H, Al-Serri Ahmad E, Al-Bustan Suzanne A

机构信息

Department of Biological Sciences, Faculty of Science.

Unit of Human Genetics, Department of Pathology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

出版信息

Cardiovasc Endocrinol Metab. 2021 Sep 27;10(4):215-221. doi: 10.1097/XCE.0000000000000254. eCollection 2021 Dec.

Abstract

Lipoprotein lipase is a key enzyme in lipid metabolism with reported variants associated with obesity, hypertension, type 2 diabetes, and coronary heart disease. This study was performed to investigate the association between common lipoprotein lipase single nucleotide polymorphisms and metabolic disorders in a sample of Kuwaiti cohort (n = 494). Five lipoprotein lipase variants (rs1801177, rs295, rs326, ss2137497749, and ss2137497750) across the lipoprotein lipase gene were genotyped by real-time PCR employing the TaqMan allele discrimination assay. Genotype, allelic frequencies, and Hardy-Weinberg Equilibrium were determined for each variant in the cohort followed by multivariate and logistic regression analysis. A novel finding was observed for the G allele of single nucleotide polymorphism rs326 which was associated with increased BMI after adjusting for age and sex (β = 1.04; 95% confidence interval = 0.15-1.94; = 0.02). Moreover, a significant difference in the distribution of the minor C allele of rs295 among coronary heart disease subjects compared with noncoronary heart disease, however, this significance was diminished after controlling for age, sex, and BMI. This study demonstrated that lipoprotein lipase rs326 may be indicative for the increased risk of obesity and possibly rs295 for coronary heart disease. The findings are also in agreement with other reports suggesting that intronic variants are important genetic markers in association studies. The findings warrant further studies in a large cohort to confirm and validate the results presented.

摘要

脂蛋白脂肪酶是脂质代谢中的关键酶,有报道称其变异与肥胖、高血压、2型糖尿病和冠心病有关。本研究旨在调查科威特队列样本(n = 494)中常见的脂蛋白脂肪酶单核苷酸多态性与代谢紊乱之间的关联。采用TaqMan等位基因鉴别分析法,通过实时PCR对脂蛋白脂肪酶基因上的五个脂蛋白脂肪酶变异(rs1801177、rs295、rs326、ss2137497749和ss2137497750)进行基因分型。确定了队列中每个变异的基因型、等位基因频率和哈迪-温伯格平衡,随后进行多变量和逻辑回归分析。观察到单核苷酸多态性rs326的G等位基因有一个新发现,在调整年龄和性别后,该等位基因与体重指数增加有关(β = 1.04;95%置信区间 = 0.15 - 1.94;P = 0.02)。此外,与非冠心病患者相比,冠心病患者中rs295的次要C等位基因分布存在显著差异,然而,在控制年龄、性别和体重指数后,这种显著性降低。本研究表明,脂蛋白脂肪酶rs326可能表明肥胖风险增加,rs295可能表明冠心病风险增加。这些发现也与其他报告一致,表明内含子变异在关联研究中是重要的遗传标记。这些发现值得在更大的队列中进行进一步研究,以证实和验证所呈现的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/998d/8575433/4c242ee28b0c/xce-10-215-g001.jpg

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