科威特人群中LPL rs326与BMI的遗传关联

IF 1.3 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Cardiovascular Endocrinology & Metabolism Pub Date : 2021-09-27 eCollection Date: 2021-12-01 DOI:10.1097/XCE.0000000000000254
Sara H Malek, Ahmad E Al-Serri, Suzanne A Al-Bustan
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引用次数: 2

摘要

脂蛋白脂肪酶是脂质代谢的关键酶,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)中常见脂蛋白脂肪酶单核苷酸多态性与代谢紊乱之间的关系。采用TaqMan等位基因鉴别法,采用实时荧光定量PCR技术对5个脂蛋白脂肪酶基因(rs1801177、rs295、rs326、ss2137497749和ss2137497750)进行分型。在多变量和logistic回归分析之后,确定了队列中每个变异的基因型、等位基因频率和Hardy-Weinberg平衡。在调整年龄和性别后,单核苷酸多态性的G等位基因rs326与BMI增加相关,有一个新的发现(β = 1.04;95%置信区间= 0.15-1.94;P = 0.02)。此外,与非冠心病受试者相比,冠心病受试者rs295的次要C等位基因的分布有显著差异,但在控制年龄、性别和BMI后,这种显著性减弱。本研究表明,脂蛋白脂肪酶rs326可能指示肥胖风险增加,rs295可能指示冠心病风险增加。这些发现也与其他报告一致,表明内含子变异是关联研究中重要的遗传标记。这些发现需要在一个大的队列中进行进一步的研究,以确认和验证所提出的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genetic association of <i>LPL</i> rs326 with BMI among the Kuwaiti population.

Genetic association of LPL rs326 with BMI among the Kuwaiti population.

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; P = 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.

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来源期刊
Cardiovascular Endocrinology & Metabolism
Cardiovascular Endocrinology & Metabolism CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
5.60
自引率
0.00%
发文量
24
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