Evidence map›Paper›PMID 38982111›Full record

ArticleNature communications2024

Whole exome sequencing analysis identifies genes for alcohol consumption.

Jujiao Kang, Yue-Ting Deng, Bang-Sheng Wu, Wei-Shi Liu, Ze-Yu Li, Shitong Xiang, Liu Yang, Jia You, Xiaohong Gong, Tianye Jia and 3 more

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Jujiao Kang *Institute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China.ORCID 0000-0002-4489-7281
Yue-Ting Deng *Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, 200433, China.ORCID 0000-0002-9962-7860
Bang-Sheng Wu *Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, 200433, China.
Wei-Shi LiuDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, 200433, China.
Ze-Yu LiInstitute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China.
Shitong XiangInstitute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China.ORCID 0000-0002-5513-4714
Liu YangDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, 200433, China.
Jia YouInstitute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China.ORCID 0000-0002-7079-8041
Xiaohong GongSchool of Life Sciences, Fudan University, Shanghai, 200433, China.ORCID 0000-0002-9730-8815
Tianye JiaInstitute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China.ORCID 0000-0001-5399-2953
Jin-Tai YuDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, 200433, China. jintai_yu@fudan.edu.cn.ORCID 0000-0002-2532-383X
Wei ChengInstitute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China. wcheng@fudan.edu.cn.ORCID 0000-0003-1118-1743
Jianfeng FengInstitute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China. jffeng@fudan.edu.cn.ORCID 0000-0002-8890-8288

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alcohol consumption is a heritable behavior seriously endangers human health. However, genetic studies on alcohol consumption primarily focuses on common variants, while insights from rare coding variants are lacking. Here we leverage whole exome sequencing data across 304,119 white British individuals from UK Biobank to identify protein-coding variants associated with alcohol consumption. Twenty-five variants are associated with alcohol consumption through single variant analysis and thirteen genes through gene-based analysis, ten of which have not been reported previously. Notably, the two unreported alcohol consumption-related genes GIGYF1 and ANKRD12 show enrichment in brain function-related pathways including glial cell differentiation and are strongly expressed in the cerebellum. Phenome-wide association analyses reveal that alcohol consumption-related genes are associated with brain white matter integrity and risk of digestive and neuropsychiatric diseases. In summary, this study enhances the comprehension of the genetic architecture of alcohol consumption and implies biological mechanisms underlying alcohol-related adverse outcomes.

Indexed as

Alcohol DrinkingExome SequencingBrainExomeFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideUnited Kingdom

Identifiers

PMID38982111
PMCPMC11233704

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.