对格陵兰混血兄弟姐妹的分析表明,因纽特人和欧洲人的代谢表型基因型平均值不同。

IF 10.4 1区 生物学 Q1 GENETICS & HEREDITY
Long Lin, Mette K Andersen, Frederik Filip Stæger, Zilong Li, Kristian Hanghøj, Allan Linneberg, Niels Grarup, Marit Eika Jørgensen, Torben Hansen, Ida Moltke, Anders Albrechtsen
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引用次数: 0

摘要

背景:包括因纽特人和欧洲人在内的许多人群的疾病流行率和平均表型值都存在差异。这些差异是部分由遗传差异造成的,还是完全由环境暴露差异造成的,目前还不得而知,因为对这些平均值(我们在此称为平均基因型值)的遗传贡献的估计很容易被混淆,而且缺乏对不同基因人群的研究:利用格陵兰岛人口少、混血且历史上与世隔绝的独特遗传特性,我们采用混血同胞设计估算了因纽特人和欧洲人遗传祖先的平均基因型值差异。我们对 5996 名格陵兰人队列中的 1474 对混血同胞兄弟姐妹的 26 种代谢表型进行了分析:结果:在对多重检验进行 FDR 校正后,我们发现因纽特遗传血统与欧洲遗传血统相比,体重的平均基因型值明显较低(因纽特遗传血统百分比的效应大小(se),-0.51 (0.16) kg/%)、体重指数(-0.20 (0.06) kg/m2/%)、脂肪百分比(-0.38 (0.13) %/%)、腰围(-0.42 (0.16) cm/%)、臀围(-0.38 (0.11) cm/%)和空腹血清胰岛素水平(-1.07 (0.51) pmol/l/%)。影响的方向与观察到的因纽特人和欧洲人遗传血统之间的平均表型差异一致。在身高、葡萄糖稳态标记物或循环血脂水平方面,没有观察到平均基因型值的差异:我们的研究表明,使用一种不易受环境暴露差异影响的方法,两个人群的某些代谢表型的平均基因型值存在差异。我们的研究说明了在不同人群中进行基因研究的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans.

Background: Disease prevalence and mean phenotype values differ between many populations, including Inuit and Europeans. Whether these differences are partly explained by genetic differences or solely due to differences in environmental exposures is still unknown, because estimates of the genetic contribution to these means, which we will here refer to as mean genotypic values, are easily confounded, and because studies across genetically diverse populations are lacking.

Methods: Leveraging the unique genetic properties of the small, admixed and historically isolated Greenlandic population, we estimated the differences in mean genotypic value between Inuit and European genetic ancestry using an admixed sibling design. Analyses were performed across 26 metabolic phenotypes, in 1474 admixed sibling pairs present in a cohort of 5996 Greenlanders.

Results: After FDR correction for multiple testing, we found significantly lower mean genotypic values in Inuit genetic ancestry compared to European genetic ancestry for body weight (effect size per percentage of Inuit genetic ancestry (se), -0.51 (0.16) kg/%), body mass index (-0.20 (0.06) kg/m2/%), fat percentage (-0.38 (0.13) %/%), waist circumference (-0.42 (0.16) cm/%), hip circumference (-0.38 (0.11) cm/%) and fasting serum insulin levels (-1.07 (0.51) pmol/l/%). The direction of the effects was consistent with the observed mean phenotype differences between Inuit and European genetic ancestry. No difference in mean genotypic value was observed for height, markers of glucose homeostasis, or circulating lipid levels.

Conclusions: We show that mean genotypic values for some metabolic phenotypes differ between two human populations using a method not easily confounded by possible differences in environmental exposures. Our study illustrates the importance of performing genetic studies in diverse populations.

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来源期刊
Genome Medicine
Genome Medicine GENETICS & HEREDITY-
CiteScore
20.80
自引率
0.80%
发文量
128
审稿时长
6-12 weeks
期刊介绍: Genome Medicine is an open access journal that publishes outstanding research applying genetics, genomics, and multi-omics to understand, diagnose, and treat disease. Bridging basic science and clinical research, it covers areas such as cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The journal publishes original research, methods, software, and reviews to serve authors and promote broad interest and importance in the field.
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