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对多达 120 万人的关联研究为烟草和酒精使用的遗传病因学提供了新的见解。

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.

机构信息

Department of Psychology, University of Minnesota Twin Cities, Minneapolis, MN, USA.

Department of Public Health Sciences, College of Medicine, Pennsylvania State University, Hershey, PA, USA.

出版信息

Nat Genet. 2019 Feb;51(2):237-244. doi: 10.1038/s41588-018-0307-5. Epub 2019 Jan 14.

DOI:10.1038/s41588-018-0307-5
PMID:30643251
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6358542/
Abstract

Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders. They are heritable and etiologically related behaviors that have been resistant to gene discovery efforts. In sample sizes up to 1.2 million individuals, we discovered 566 genetic variants in 406 loci associated with multiple stages of tobacco use (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci evidencing pleiotropic association. Smoking phenotypes were positively genetically correlated with many health conditions, whereas alcohol use was negatively correlated with these conditions, such that increased genetic risk for alcohol use is associated with lower disease risk. We report evidence for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission. The results provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures.

摘要

烟草和酒精的使用是导致死亡的主要原因，会增加多种复杂疾病和障碍的发病风险。它们是可遗传的、有病因关联的行为，这使得它们很难被发现。在样本量达 120 万人的范围内，我们在 406 个基因座中发现了与烟草使用（起始、戒烟和吸烟量）以及饮酒多个阶段相关的 566 个遗传变异，其中 150 个基因座表现出多效性关联。吸烟表型与许多健康状况呈正相关，而饮酒则与这些状况呈负相关，因此，饮酒的遗传风险增加与疾病风险降低有关。我们报告了许多系统参与烟草和酒精使用的证据，包括涉及烟碱型、多巴胺能和谷氨酸能神经递质的基因。这些结果为在模式生物中评估这些基因座的作用以及更精确的物质使用措施提供了坚实的起点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/303a2c404a34/nihms-1511852-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/889fd3b93e78/nihms-1511852-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/6319d53bd901/nihms-1511852-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/a01c2f5fcfdc/nihms-1511852-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/303a2c404a34/nihms-1511852-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/889fd3b93e78/nihms-1511852-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/6319d53bd901/nihms-1511852-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/a01c2f5fcfdc/nihms-1511852-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c767/6358542/303a2c404a34/nihms-1511852-f0004.jpg

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本文引用的文献

[1]
Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits.

Nat Hum Behav. 2019-4-8

[2]
Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes.

PLoS Genet. 2018-7-17

[3]
The nature of nurture: Effects of parental genotypes.

Science. 2018-1-26

[4]
Multi-trait analysis of genome-wide association summary statistics using MTAG.

Nat Genet. 2018-1-1

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Genetic effects on gene expression across human tissues.

Nature. 2017-10-11

[6]
The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia.

Am J Med Genet B Neuropsychiatr Genet. 2018-3

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Genome Biol. 2017-5-16

[8]
Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.

Mol Psychiatry. 2017-9

[9]
A relationship between the aldosterone-mineralocorticoid receptor pathway and alcohol drinking: preliminary translational findings across rats, monkeys and humans.

Mol Psychiatry. 2017-5-2

[10]
Problematic alcohol use and reduced hippocampal volume: a meta-analytic review.

Psychol Med. 2017-4-4

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