Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.
Endocrine. 2010 Oct;38(2):289-93. doi: 10.1007/s12020-010-9386-5. Epub 2010 Oct 23.
The melanocortin-3 receptor is a vital link in the leptin-melanocortin signaling pathway in the brain and has a role in the regulation of energy homeostasis. It was hypothesized that common polymorphisms in MC3R could increase susceptibility for the development of obesity, but different studies have led to contradictory results. In this study, we investigated the association of SNPs in MC3R with the development of obesity in an extensive Caucasian population. Using the HapMap, we selected two tagSNPs (rs6127698 and rs3746619) that cover all of the common genetic variation in MC3R and genotyped them in 1008 obese cases and 313 normal weight controls. Statistical analysis of the data showed that none of the analyzed SNPs were associated with obesity. However, linear regression analysis did show that SNP rs3746619 has an influence on weight (P=0.015) in the obese population only. Furthermore, a trend for association with BMI in the obese population was observed for this SNP (P=0.039). Taken together, these data are consistent with the involvement of rs3746619 in weight regulation among obese individuals. However, further research including replication of our results is necessary to elucidate the role of MC3R in complex obesity.
黑皮质素-3 受体是大脑中瘦素-黑皮质素信号通路的重要环节，在能量平衡的调节中起作用。人们假设 MC3R 中的常见多态性可能会增加肥胖的易感性，但不同的研究得出了相互矛盾的结果。在这项研究中，我们在广泛的白种人群体中研究了 MC3R 中的 SNP 与肥胖发展的相关性。我们利用 HapMap 选择了两个覆盖 MC3R 所有常见遗传变异的标签 SNP（rs6127698 和 rs3746619），并对 1008 例肥胖病例和 313 例正常体重对照进行了基因分型。数据分析显示，没有分析的 SNP 与肥胖有关。然而，线性回归分析确实表明，SNP rs3746619 仅在肥胖人群中对体重有影响（P=0.015）。此外，还观察到该 SNP 与肥胖人群的 BMI 呈关联趋势（P=0.039）。总的来说，这些数据与 rs3746619 在肥胖个体的体重调节中有关。然而，需要进一步的研究，包括对我们结果的复制，以阐明 MC3R 在复杂肥胖中的作用。
