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超过100万人的问题性饮酒遗传学多血统研究。

Multi-ancestry study of the genetics of problematic alcohol use in >1 million individuals.

作者信息

Zhou Hang, Kember Rachel L, Deak Joseph D, Xu Heng, Toikumo Sylvanus, Yuan Kai, Lind Penelope A, Farajzadeh Leila, Wang Lu, Hatoum Alexander S, Johnson Jessica, Lee Hyunjoon, Mallard Travis T, Xu Jiayi, Johnston Keira J A, Johnson Emma C, Galimberti Marco, Dao Cecilia, Levey Daniel F, Overstreet Cassie, Byrne Enda M, Gillespie Nathan A, Gordon Scott, Hickie Ian B, Whitfield John B, Xu Ke, Zhao Hongyu, Huckins Laura M, Davis Lea K, Sanchez-Roige Sandra, Madden Pamela A F, Heath Andrew C, Medland Sarah E, Martin Nicholas G, Ge Tian, Smoller Jordan W, Hougaard David M, Børglum Anders D, Demontis Ditte, Krystal John H, Gaziano J Michael, Edenberg Howard J, Agrawal Arpana, Justice Amy C, Stein Murray B, Kranzler Henry R, Gelernter Joel

机构信息

Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.

Veterans Affairs Connecticut Healthcare System, West Haven, CT, USA.

出版信息

medRxiv. 2023 Jan 30:2023.01.24.23284960. doi: 10.1101/2023.01.24.23284960.

Abstract

Problematic alcohol use (PAU) is a leading cause of death and disability worldwide. To improve our understanding of the genetics of PAU, we conducted a large cross-ancestry meta-analysis of PAU in 1,079,947 individuals. We observed a high degree of cross-ancestral similarity in the genetic architecture of PAU and identified 110 independent risk variants in within- and cross-ancestry analyses. Cross-ancestry fine-mapping improved the identification of likely causal variants. Prioritizing genes through gene expression and/or chromatin interaction in brain tissues identified multiple genes associated with PAU. We identified existing medications for potential pharmacological studies by drug repurposing analysis. Cross-ancestry polygenic risk scores (PRS) showed better performance in independent sample than single-ancestry PRS. Genetic correlations between PAU and other traits were observed in multiple ancestries, with other substance use traits having the highest correlations. The analysis of diverse ancestries contributed significantly to the findings, and fills an important gap in the literature.

摘要

问题性饮酒(PAU)是全球死亡和残疾的主要原因。为了增进我们对PAU遗传学的理解,我们对1,079,947名个体进行了大规模的跨血统PAU荟萃分析。我们观察到PAU的遗传结构具有高度的跨血统相似性,并在血统内和跨血统分析中确定了110个独立的风险变异。跨血统精细定位改善了对可能的因果变异的识别。通过脑组织中的基因表达和/或染色质相互作用对基因进行优先级排序,确定了多个与PAU相关的基因。我们通过药物重新利用分析确定了用于潜在药理学研究的现有药物。跨血统多基因风险评分(PRS)在独立样本中的表现优于单血统PRS。在多个血统中观察到PAU与其他性状之间的遗传相关性,其中与其他物质使用性状的相关性最高。对不同血统的分析对研究结果有显著贡献,并填补了文献中的一个重要空白。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1ce/9901058/e93645ac7417/nihpp-2023.01.24.23284960v2-f0001.jpg

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