Al-Bustan Suzanne A, Al-Serri Ahmad E, Al-Adsani Amani M, Miranda Lavina, Annice Babitha G, Hamdan Hala, Alnaqeeb Majed A
Department of Biological Sciences, Faculty of Science, Kuwait University, P.O. Box 5069, Safat, Kuwait City 13060, Kuwait.
Unit of Human Genetics, Department of Pathology, Faculty of Medicine, Kuwait University, Kuwait City 13060, Kuwait.
Int J Mol Sci. 2025 Jul 28;26(15):7282. doi: 10.3390/ijms26157282.
Several single-nucleotide polymorphisms (SNPs) across the lipoprotein lipase () gene have been found to be associated with dyslipidemia and obesity. Several InDels and SNPs in exon 1, intron 2, and intron 7 have been reported; however, their association with lipid parameters and body mass index (BMI) remains unclear. Here, we aimed to investigate the relationship among variants, lipid levels, and BMI in a Kuwaiti population. Sanger sequencing was performed on three targeted regions of the gene. Based on the minor allele frequency, Hardy-Weinberg equilibrium, and linkage disequilibrium, five SNPs were selected and genotyped in a cohort of 688 Kuwaiti samples to investigate their association with lipid levels and BMI. A total of 30 variants (6 InDels and 24 SNPs) were identified; of them, 5 SNPs (rs1800590, rs74377536, rs8176337, rs303, and rs304) were selected for their association with BMI and lipid levels. The G-allele of rs8176337 was found to be associated with increased BMI (β = 1.41; 95% confidence interval = 0.22-2.60; = 0.02). In addition, an association was observed for rs303 and rs304 with both cholesterol and LDL ( < 0.05). Overall, our results demonstrate an association between variants and lipid levels, and the observed association between rs8176337 and BMI was novel.
脂蛋白脂肪酶（LPL）基因上的几个单核苷酸多态性（SNP）已被发现与血脂异常和肥胖有关。外显子1、内含子2和内含子7中的几个插入缺失（InDel）和SNP已见报道；然而，它们与血脂参数和体重指数（BMI）之间的关联仍不清楚。在此，我们旨在研究科威特人群中LPL变体、血脂水平和BMI之间的关系。对LPL基因的三个靶向区域进行了桑格测序。基于次要等位基因频率、哈迪-温伯格平衡和连锁不平衡，选择了5个SNP在688例科威特样本队列中进行基因分型，以研究它们与血脂水平和BMI的关联。共鉴定出30个变体（6个InDel和24个SNP）；其中，5个SNP（rs1800590、rs74377536、rs8176337、rs303和rs304）因其与BMI和血脂水平的关联而被选中。发现rs8176337的G等位基因与BMI升高有关（β=1.41；95%置信区间=0.22 - 2.60；P = 0.02）。此外，观察到rs303和rs304与胆固醇和低密度脂蛋白均有关联（P < 0.05）。总体而言，我们的结果证明了LPL变体与血脂水平之间存在关联，并且观察到的rs8176337与BMI之间的关联是新发现的。
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