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GWAS 研究体重指数:探索肥胖遗传基础的宝贵资源。

GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity.

机构信息

Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.

Institute of Biological and Environmental Sciences, University of Aberdeen, Aberdeen, Scotland, UK.

出版信息

Int J Obes (Lond). 2018 Aug;42(8):1524-1531. doi: 10.1038/s41366-018-0147-5. Epub 2018 Jul 6.

DOI:10.1038/s41366-018-0147-5
PMID:29980761
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6115287/
Abstract

Muller et al. [1] have provided a strong critique of the Genome-Wide Association Studies (GWAS) of body-mass index (BMI), arguing that the GWAS approach for the study of BMI is flawed, and has provided us with few biological insights. They suggest that what is needed instead is a new start, involving GWAS for more complex energy balance related traits. In this invited counter-point, we highlight the substantial advances that have occurred in the obesity field, directly stimulated by the GWAS of BMI. We agree that GWAS for BMI is not perfect, but consider that the best route forward for additional discoveries will likely be to expand the search for common and rare variants linked to BMI and other easily obtained measures of obesity, rather than attempting to perform new, much smaller GWAS for energy balance traits that are complex and expensive to measure. For GWAS in general, we emphasise that the power from increasing the sample size of a crude but easily measured phenotype outweighs the benefits of better phenotyping.

摘要

Muller 等人 [1] 对体重指数 (BMI) 的全基因组关联研究 (GWAS) 提出了严厉批评,认为用于 BMI 研究的 GWAS 方法存在缺陷,并且为我们提供的生物学见解甚少。他们建议,相反,我们需要一个新的开始,涉及到与更复杂的能量平衡相关特征的 GWAS。在这篇特邀反驳文章中,我们强调了直接受到 BMI GWAS 刺激的肥胖领域所取得的重大进展。我们同意 BMI 的 GWAS 并不完美,但认为进一步发现的最佳途径可能是扩大对与 BMI 和其他易于获得的肥胖测量值相关的常见和罕见变异的搜索,而不是尝试进行新的、更小的、复杂且昂贵的能量平衡特征的 GWAS。对于一般的 GWAS,我们强调增加粗略但易于测量的表型样本量的功效超过了更好表型化的益处。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f108/6115287/6247a7c14647/nihms961170f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f108/6115287/6247a7c14647/nihms961170f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f108/6115287/6247a7c14647/nihms961170f1.jpg

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