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荷兰阿姆斯特丹大学Abdel Abdellaoui研究团队发现跨地理区域的基因-环境相关性会影响全基因组关联研究（GWAS）。2022年8月22日出版的《自然-遗传学》发表了这项成果。

研究人员在多达43,516名英国兄弟姐妹中发现，受教育程度的多基因分数捕获了基因-环境相关性，并且进一步将这些基因-环境相关性从家庭扩展到更广泛的地理区域。随后，研究人员对多达254,387名英国人的56个复杂特征进行了GWAS。地理区域显著降低了社会经济地位（SES）相关性状的遗传影响，最显著的是受教育程度和收入。

对于大多数性状，控制区域显著降低了与教育程度和收入的遗传相关性，最明显的是体重指数/体脂、久坐行为和物质使用，这与区域社会经济差异相关的基因-环境相关性一致。出生地和当前生活区域的影响表明基因-环境相关性的被动和主动来源。该研究结果表明，DNA和SES的地理聚类引入了影响GWAS结果的基因-环境相关性。

研究人员表示，基因-环境相关性影响全基因组关联研究，其旨在揭示遗传变异和复杂性状之间的关联。

附：英文原文

Title: Gene–environment correlations across geographic regions affect genome-wide association studies

Author: Abdellaoui, Abdel, Dolan, Conor V., Verweij, Karin J. H., Nivard, Michel G.

Issue&Volume: 2022-08-22

Abstract: Gene–environment correlations affect associations between genetic variants and complex traits in genome-wide association studies (GWASs). Here we showed in up to 43,516 British siblings that educational attainment polygenic scores capture gene–environment correlations, and that migration extends these gene–environment correlations beyond the family to broader geographic regions. We then ran GWASs on 56 complex traits in up to 254,387 British individuals. Controlling for geographic regions significantly decreased the heritability for socioeconomic status (SES)-related traits, most strongly for educational attainment and income. For most traits, controlling for regions significantly reduced genetic correlations with educational attainment and income, most significantly for body mass index/body fat, sedentary behavior and substance use, consistent with gene–environment correlations related to regional socio-economic differences. The effects of controlling for birthplace and current address suggest both passive and active sources of gene–environment correlations. Our results show that the geographic clustering of DNA and SES introduces gene–environment correlations that affect GWAS results.

DOI: 10.1038/s41588-022-01158-0

Source: https://www.nature.com/articles/s41588-022-01158-0

Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex