Bouchard C, Pérusse L, Chagnon Y C, Warden C, Ricquier D
Physical Activity Sciences Laboratory, Laval University, Ste-Foy, Québec, Canada.
Hum Mol Genet. 1997 Oct;6(11):1887-9. doi: 10.1093/hmg/6.11.1887.
The recent cloning of a gene that codes for a novel uncoupling protein, UCP2, which is expressed in a wide range of adult human tissues, has raised the possibility that it may be involved in regulation of energy balance. To explore this concept we have investigated potential linkage relationships between three microsatellite markers which encompass the UCP2 gene location on 11q13 with resting metabolic rate (RMR), body mass index, percentage body fat (%FAT) and fat mass (FM) in 640 individuals from 155 pedigrees from the Québec Family Study. Using a linkage analysis strategy based on sibling, avuncular, grandparental and cousin pairs, strong evidence of linkage was found between the marker D11S911 (P = 0.000002) and RMR, with more moderate evidence for D11S916 (P = 0.006) and D11S1321 (P = 0.02). Suggestive evidence of linkage was also observed between D11S1321 and %FAT (P = 0.04) and FM (P = 0.02). It is concluded that the three markers encompassing the UCP2 locus and spanning a 5 cM region on 11q13 are linked to resting energy expenditure in adult humans. The evidence is strong enough to warrant a search for DNA sequence variation in the gene itself.
最近克隆出一种编码新型解偶联蛋白UCP2的基因，该蛋白在多种成人组织中表达，这增加了其可能参与能量平衡调节的可能性。为了探究这一概念，我们在魁北克家族研究中，对来自155个家系的640名个体，研究了包含位于11q13上UCP2基因位置的三个微卫星标记与静息代谢率（RMR）、体重指数、体脂百分比（%FAT）和脂肪量（FM）之间的潜在连锁关系。使用基于同胞、叔侄、祖孙和堂亲对的连锁分析策略，发现标记D11S911与RMR之间存在强烈的连锁证据（P = 0.000002），D11S916（P = 0.006）和D11S1321（P = 0.02）的证据则较为中等。在D11S1321与%FAT（P = 0.04）和FM（P = 0.02）之间也观察到了暗示性的连锁证据。得出的结论是，包含UCP2基因座并跨越11q13上5 cM区域的这三个标记与成年人的静息能量消耗有关。证据足够有力，值得对该基因本身的DNA序列变异进行研究。
