Sramkova D, Krejbichova S, Vcelak J, Vankova M, Samalikova P, Hill M, Kvasnickova H, Dvorakova K, Vondra K, Hainer V, Bendlova B
Institute of Endocrinology, Prague, Czech Republic.
Exp Clin Endocrinol Diabetes. 2007 May;115(5):303-7. doi: 10.1055/s-2007-977732.
Mitochondrial uncoupling contributes to the control of energy expenditure. The brown fat specific uncoupling protein 1 (UCP1) mRNA was detected in intraperitoneal and extraperitoneal adipose tissue in adult humans. The A-3826G polymorphism in the UCP1 gene promoter region was found to be associated with reduced mRNA expression indicating that the polymorphism is of functional importance.
To determine allelic frequencies and genotypic distribution of the A-3826G polymorphism and to study its possible association with anthropometric parameters and biochemical markers of glucose and lipid metabolism in type 2 diabetes mellitus (DM2) patients (n=295), in offspring of DM2 patients (n=113), and in healthy adults without family history of DM2 (n=120).
In the whole cohort of 528 subjects, the G allele was observed with a frequency of 0.26. Genotypic distribution did not differ between diabetics and controls. However, in the offspring of DM2 patients, significantly higher BMI and a trend towards higher waist to hip ratio, waist to height ratio, waist circumference, and subcutaneous fat mass was observed in the AG genotype compared with the wild-type. Similar tendency was evident in the control group. This indicates possible involvement of the A-3826G polymorphism in the regulation of body composition.
线粒体解偶联有助于控制能量消耗。在成年人体内的腹膜内和腹膜外脂肪组织中检测到棕色脂肪特异性解偶联蛋白1（UCP1）mRNA。发现UCP1基因启动子区域的A-3826G多态性与mRNA表达降低有关，表明该多态性具有功能重要性。
确定2型糖尿病（DM2）患者（n = 295）、DM2患者后代（n = 113）以及无DM2家族史的健康成年人（n = 120）中A-3826G多态性的等位基因频率和基因型分布，并研究其与人体测量参数以及葡萄糖和脂质代谢生化标志物的可能关联。
在528名受试者的整个队列中，G等位基因的观察频率为0.26。糖尿病患者和对照组之间的基因型分布没有差异。然而，在DM2患者的后代中，与野生型相比，AG基因型的BMI显著更高，并且腰臀比、腰高比、腰围和皮下脂肪量有升高的趋势。在对照组中也有类似的趋势。这表明A-3826G多态性可能参与身体成分的调节。
