Genetic variation at the hormone sensitive lipase: gender-specific association with plasma lipid and glucose concentrations
Genetic variation at the hormone sensitive lipase: gender-specific association with plasma lipid and glucose concentrations
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DOI：
10.1111/j.0009-9163.2004.00196.x
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发表时间：
2004-02-01
影响因子：
3.5
通讯作者：
Ordovas, JM
中科院分区：
文献类型：
--
作者：
Qi, L;Shen, H;Ordovas, JM
激素敏感脂肪酶（HSL）催化细胞内三酰基甘油和胆固醇酯的水解，并参与调节体脂、甾体生成和胰岛素分泌。因此，HSL位点（LIPE）的遗传变异可能在脂质代谢和肥胖和2型糖尿病的风险中发挥重要作用。因此，我们研究了两个LIPE单核苷酸多态性（SNP）[启动子区域的14672C>G和内含子2上的17948C>T (rs1206034)]与超重和肥胖男性（373）和女性（361）人群的血浆脂质、人体测量学和葡萄糖相关表型有关。在女性中，17948T等位基因与降低总胆固醇（TC, p = 0.001）、低密度脂蛋白胆固醇（LDLc, p < 0.001）和载脂蛋白e浓度（p = 0.041）相关。相反，女性LIPE 14672G等位基因携带者的TC （p = 0.047）、LDLc （p = 0.041）和apoE （p = 0.041）水平显著高于女性。虽然我们在男性中没有发现显著的关联，但我们观察到不饮酒的LIPE 14672G男性携带者的血糖水平高于非携带者（p = 0.008），而饮酒者之间没有等位基因相关的差异（p = 0.019）。这些snp与人体测量变量没有显著相关。总之，该基因座的变异与脂质和葡萄糖测量有性别特异性关联，而后者受饮酒的影响。
Hormone-sensitive lipase (HSL) catalyzes the intracellular hydrolysis of triacylglycerols and cholesteryl esters, and it is involved in regulating body fat, steroidogenesis, and insulin secretion. Thus, genetic variability at the HSL locus (LIPE) may play a significant role on lipid metabolism and the risk of obesity and type 2 diabetes. Therefore, we have examined two LIPE single nucleotide polymorphism (SNP) [14672C>G in the promoter region and 17948C>T (rs1206034) on intron 2] in relation to plasma lipids, anthropometrical and glucose-related phenotypes in a population of mostly overweight and obese men (373) and women (361). In women, the 17948T allele was associated with decreased total cholesterol (TC, p = 0.001), LDL-cholesterol (LDLc, p < 0.001) and apoE concentrations (p = 0.041). Conversely, female carriers of the LIPE 14672G allele had significantly higher TC (p = 0.047), LDLc (p = 0.041), and apoE (p = 0.041) levels. Although we did not find significant associations in men, we observed that male carriers of the LIPE 14672G who did not drink alcohol showed higher glucose levels than non-carriers (p = 0.008), whereas there were no allele-related differences among drinkers (p = 0.019 for the interaction). These SNPs were not significantly associated with anthropometrical variables. In summary, variation at this locus showed gender-specific associations with lipids and glucose measures, and the latter was influenced by alcohol drinking.