Hamann A, Tafel J, Büsing B, Münzberg H, Hinney A, Mayer H, Siegfried W, Ricquier D, Greten H, Hebebrand J, Matthaei S
Department of Medicine, University-Hospital Eppendorf, Hamburg, Germany.
Int J Obes Relat Metab Disord. 1998 Sep;22(9):939-41. doi: 10.1038/sj.ijo.0800725.
Uncoupling protein-1 (UCP1) is uniquely expressed in brown adipose tissue (BAT) and of major importance for the tissues thermogenic capacity. This study was undertaken to detect variants in the UCP1 gene by single strand conformational polymorphism (SSCP) analysis and subsequent sequencing, and determine their potential association with obesity. Four variants predicting for amino acid substitutions were detected, of which Arg40Trp (exon 1) and Lys257Arg (exon 5) were rare mutations. In contrast, the allele frequency of a polymorphism in exon 2 predicting for an Ala64Thr substitution was 8.2% in a cohort of 293 obese children and adolescents compared to 4.1% in 134 lean individuals, while the allele frequency of a Met229Leu variant (exon 5) was not markedly different between the obese (10.4%) and lean (12.0%) study groups. Although one of the identified polymorphisms tends to have a higher frequency in obese than in lean subjects, variants of the UCP1 gene do not seem to contribute significantly to the development of early-onset obesity in the German population.
解偶联蛋白-1（UCP1）仅在棕色脂肪组织（BAT）中表达，对该组织的产热能力至关重要。本研究旨在通过单链构象多态性（SSCP）分析及后续测序检测UCP1基因中的变异，并确定它们与肥胖的潜在关联。检测到四个预测氨基酸替代的变异，其中Arg40Trp（外显子1）和Lys257Arg（外显子5）为罕见突变。相比之下，预测Ala64Thr替代的外显子2多态性在293名肥胖儿童和青少年队列中的等位基因频率为8.2%，而在134名瘦人个体中为4.1%，而Met229Leu变异（外显子5）在肥胖（10.4%）和瘦人（12.0%）研究组之间的等位基因频率没有明显差异。尽管所鉴定的多态性之一在肥胖者中的频率往往高于瘦人，但UCP1基因变异似乎对德国人群早发性肥胖的发生没有显著影响。
