Journal article
Genetic influences on alcohol flushing in East Asian populations
- Abstract:
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Background
Although it is known that variation in the aldehyde dehydrogenase 2 (ALDH2) gene family influences the East Asian alcohol flushing response, knowledge about other genetic variants that affect flushing symptoms is limited.
Methods
We performed a genome-wide association study meta-analysis and heritability analysis of alcohol flushing in 15,105 males of East Asian ancestry (Koreans and Chinese) to identify genetic associations with alcohol flushing. We also evaluated whether self-reported flushing can be used as an instrumental variable for alcohol intake.
Results
We identified variants in the region of ALDH2 strongly associated with alcohol flushing, replicating previous studies conducted in East Asian populations. Additionally, we identified variants in the alcohol dehydrogenase 1B (ADH1B) gene region associated with alcohol flushing. Several novel variants were identified after adjustment for the lead variants (ALDH2-rs671 and ADH1B-rs1229984), which need to be confirmed in larger studies. The estimated SNP-heritability on the liability scale was 13% (S.E. = 4%) for flushing, but the heritability estimate decreased to 6% (S.E. = 4%) when the effects of the lead variants were controlled for. Genetic instrumentation of higher alcohol intake using these variants recapitulated known associations of alcohol intake with hypertension. Using self-reported alcohol flushing as an instrument gave a similar association pattern of higher alcohol intake and cardiovascular disease-related traits (e.g. stroke).
Conclusion
This study confirms that ALDH2-rs671 and ADH1B-rs1229984 are associated with alcohol flushing in East Asian populations. Our findings also suggest that self-reported alcohol flushing can be used as an instrumental variable in future studies of alcohol consumption.
- Publication status:
- Published
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- Files:
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(Preview, Version of record, pdf, 1.5MB, Terms of use)
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- Publisher copy:
- 10.1186/s12864-023-09721-7
- Grant:
- 088158/Z/09/Z
- 088158/Z/09/Z
- 212946/Z/18/Z
- 202922/Z/16/Z
- 104085/Z/14/Z
- Publisher:
- BioMed Central
- Journal:
- BMC Genomics More from this journal
- Volume:
- 24
- Issue:
- 1
- Article number:
- 638
- Place of publication:
- England
- Publication date:
- 2023-10-24
- Acceptance date:
- 2023-10-06
- DOI:
- EISSN:
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1471-2164
- Pmid:
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37875790
- Language:
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English
- Keywords:
- Pubs id:
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1552549
- Local pid:
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pubs:1552549
- Deposit date:
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2023-11-22
Terms of use
- Copyright holder:
- Cho et al.
- Copyright date:
- 2023
- Rights statement:
- © The Author(s) 2023. Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
- Licence:
- CC Attribution (CC BY)
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