Department of Vascular Dysfunctions in Diabetes and Obesity, Institute of Cellular Biology and Pathology Nicolae Simionescu, Bucharest, Romania.
Biochem Biophys Res Commun. 2010 Jan 1;391(1):282-6. doi: 10.1016/j.bbrc.2009.11.050. Epub 2009 Nov 12.
We aimed to investigate whether polymorphisms LEP G-2548A and LEPR Q223R in the human leptin (LEP), and leptin receptor (LEPR) genes are associated with obesity and metabolic traits in a sample of Romanian population. Two hundred and two subjects divided in obese (body mass index, BMI30 kg/m(2)), and non-obese were included in this study. The polymorphisms were genotyped using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. The results showed no significant differences in LEP and LEPR genotype and allele frequencies between obese and non-obese subjects. Logistic regression analysis showed that LEP -2548GG genotype presented an increased risk of obesity (p=0.013, OR=1.003, 95% CI=1.000-1.007), after adjusting for age and gender. The association analysis with metabolic syndrome quantitative traits showed that homozygous for LEP -2548G allele had significantly higher leptin levels (17.2+/-6.6 ng/ml vs. 13.2+/-4.9 ng/ml, p=0.011), and carriers of R allele had higher levels of triglycerides (p=0.017) and glucose (p=0.040), and enhanced systolic (p=0.015) and diastolic blood pressure (p=0.026), after adjustment for age, gender, and BMI. These results indicate that LEP G-2548A and LEPR Q223R SNPs may not be considered as genetic risk factors for obesity in a sample of Romanian population. However, LEP -2548GG genotype appear to be important in regulating leptin levels, whereas the LEPR 223R allele might predispose healthy subjects to develop metabolic disturbances.
我们旨在研究人类瘦素（LEP）和瘦素受体（LEPR）基因中的 LEP G-2548A 和 LEPR Q223R 多态性是否与罗马尼亚人群的肥胖和代谢特征有关。本研究纳入了 202 名受试者，分为肥胖组（体重指数 BMI≥30 kg/m2）和非肥胖组。采用聚合酶链反应（PCR）结合限制性片段长度多态性（RFLP）分析检测多态性。结果显示，肥胖组和非肥胖组 LEP 和 LEPR 基因型和等位基因频率无显著差异。Logistic 回归分析显示，LEP-2548GG 基因型使肥胖的风险增加（p=0.013，OR=1.003，95%CI=1.000-1.007），校正年龄和性别后差异有统计学意义。与代谢综合征定量特征的关联分析显示，LEP-2548G 等位基因纯合子的瘦素水平显著升高（17.2±6.6 ng/ml 比 13.2±4.9 ng/ml，p=0.011），R 等位基因携带者的甘油三酯（p=0.017）和血糖（p=0.040）水平较高，且收缩压（p=0.015）和舒张压（p=0.026）较高，校正年龄、性别和 BMI 后差异仍有统计学意义。这些结果表明，LEP G-2548A 和 LEPR Q223R SNP 可能不能作为罗马尼亚人群肥胖的遗传危险因素。然而，LEP-2548GG 基因型可能在调节瘦素水平方面起重要作用，而 LEPR 223R 等位基因可能使健康个体易发生代谢紊乱。
