Population Genetic Analysis of the Uncoupling Proteins Supports a Role for UCP3 in Human Cold Resistance

Published this year, this study provides evidence that genetic variants related to temperature homeostasis in humans are correlated to climate. (It was actually cited in this week's Hancock paper!) By adjusting proton gradients within mitochondria, protein UCP1 helps regulate nonshivering thermogenesis (NST) in humans. This study set out to test whether SNPs associated with increased expression of UCP1 (and homologues UCP2 and UCP3) provide evidence of acclimatization. The SNPs were genotyped in 52 populations around the world, and correlations between allele frequencies and winter climate variables were calculated. The coding regions of the UCP genes were then resequenced in three different populations (Hausa of Cameroon, Han Chinese, and Italians) to clarify signals found in the genotype data. The results of the study suggest that climate adaptation shaped the distribution of UCP1 and UCP3 alleles.