Several studies highlighted the role of climate in shaping many human evolutionary processes. This occurred even in relatively recent times, having affected various human phenotypic traits, among which metabolic processes that orchestrate absorption and accumulation of substances to maintain energy homeostasis, that is critical for the survival of individuals in high energy-expenditure environments. To date, most researches have focalized on detection of climatic influence on SNPs' frequency in populations exposed to extreme environmental conditions or by comparing variation patterns between populations from different continents. In this study, we instead explored the genetic background of distinct western European human groups at loci involved in nutritional and thermoregulation processes, to test whether patterns of differential local adaptation to environmental conditions could be appreciated also at a lower geographical scale. Taking advantage from the 1000 Genomes Project data, genetic information for 21 genes involved in nutritional and thermoregulation processes was analysed for three western European populations. The applied Anthropological Genetics methods pointed to appreciable differentiation between the examined groups especially for the PRDM16 gene. Moreover, several neutrality tests suggested that balancing selection has acted on different regions of the gene in people from Great Britain, as well as that more recent positive selection could have also targeted some PRDM16 SNPs in Finn and Italian populations. These series of adaptive footprints are plausibly related to climate variability in both ancient and relatively recent times. Since this locus is involved in thermoregulation mechanisms and adipogenesis, local adaptations mediated by a pathway related to the brown adipose tissue activity could have evolved in response to changing cold temperature exposures of such populations.

中文翻译：

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PRDM16功能途径的多重选择性事件影响了西欧人口对不同气候条件的适应。

多项研究强调了气候在塑造许多人类进化过程中的作用。这甚至发生在相对较近的时间，已经影响了人类的各种表型特征，其中包括协调物质吸收和积累以维持能量稳态的代谢过程，这对于个人在高能量消耗环境中的生存至关重要。迄今为止，大多数研究都集中于检测暴露于极端环境条件下的种群对SNPs频率的气候影响，或通过比较不同大陆种群之间的变异模式。在这项研究中，我们改为探索了涉及营养和温度调节过程的基因座上不同西欧人类群体的遗传背景，以测试是否可以在较低的地理尺度上了解不同的局部适应环境条件的模式。利用1000个基因组计划的数据，分析了三个西欧人口中21个参与营养和温度调节过程的基因的遗传信息。所应用的人类遗传学方法指出了被检查组之间的明显区别，特别是对于PRDM16基因。此外，一些中性测试表明，平衡选择对英国人群的基因的不同区域起作用，而且最近的阳性选择也可能针对芬兰人和意大利人群中的某些PRDM16 SNP。这些系列的适应性足迹可能与古代和相对近期的气候变化有关。由于该基因座参与温度调节机制和脂肪形成，因此与棕色脂肪组织活性有关的途径介导的局部适应可能已响应于此类人群不断变化的低温暴露而发展。