They found that the genetic architecture of PAU is substantially shared across these populations
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Researchers revealed that people around the world possess a shared genetic architecture for problematic alcohol use (PAU) -- habitual heavy drinking, accompanied by harmful consequences.
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The findings, published in the journal Nature Medicine, could help scientists understand the genetic basis of PAU, a major cause of health problems in many age groups. It is a leading cause of death in those it afflicts.
This study is the largest to date for PAU -- it identified many new risk genes and uncovered a large amount of new biology. With a better understanding of PAU biology, scientists will have new possibilities in developing treatments.
"Research with the primary focus on understanding the molecular mechanism underlying PAU and identification of gene targets for potential pharmacological studies is extremely important for future treatments and could help mitigate the consequences of excessive alcohol use," said Hang Zhou, Assistant Professor of psychiatry and biomedical informatics and data science at Yale University’s School of Medicine.
Researchers studied more than 1 million people with PAU and included as many genetic ancestral groups as possible, including people with European, African, Latin American, East Asian and South Asian ancestries.
They found that the genetic architecture of PAU is substantially shared across these populations.
There are genetic differences in different populations for PAU, but the similarities are greater.
"By leveraging the multi-ancestry information, we identified 110 gene regions and had an improved fine-mapping of the potential causal variants in each region," Zhou said.
The researchers also used various methods to prioritise multiple genes with convergent evidence linking association to PAU with brain biology through gene expression (transcriptional-wide association study in 13 brain tissues) and chromatin interaction analysis in the brain.
This work will provide valuable resources and targets for future functional analysis and drug development.
The analysis also identified several existing medications as potential treatments for PAU.
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