Genetics of Alcohol Use Disorder National Institute on Alcohol Abuse and Alcoholism NIAAA

Variants known to predict alcohol sensitivity are currently being investigated by firms that offer variant-based testing directly to consumers under nutrigenetics testing. These firms predominantly test under food sensitivity and include variants that predict alcohol dependence, alcohol consumption, and alcohol use disorder, generating problematic use scores (17). A list of variants that are currently being used is depicted in Figure 1. The gene variations that result in things like nausea, headaches, and skin flushing with alcohol consumption may be more common in those of Asian or Jewish descent. These groups typically have a lower risk of developing alcohol use disorder compared to other populations. Chronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body.

But people in high-stress work environments are more likely to consume alcohol heavily than those who don’t. Different combinations of genes may come together to predispose you to an AUD, even if addiction of any kind is rare on either side of your family tree. The remaining 50% is attributed to your environment and circumstances, especially during the developmental years spanning childhood to early adulthood.

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An additional challenge in the search for genetic variants that affect
the risk for AUDs is that there is extensive clinical heterogeneity among those
meeting criteria. Because the diagnosis of an AUD requires the presence of a set of
symptoms from a checklist, there are many different ways one could meet the
criteria. There are 35 different ways one could pick 3 criteria from 7 (DSM-IV
alcohol dependence) and 330 ways to pick 4 from 11 (DSM-5 severe AUD). The clinical
heterogeneity likely reflects the genetic heterogeneity of the disease. The
difficulties of genetic studies are compounded by environmental heterogeneity in
access to alcohol and social norms related to drinking.

Most robust associations that have been reported in common disease have
employed tens of thousands of samples and are now beginning to combine several
studies of these magnitude into even larger meta analyses. The alcohol research
community has begun to form larger consortia for meta-analyses and it is anticipated
that with the resulting increase in sample size the number of robust associations
will increase. A second approach that will likely benefit the alcohol research
community will be greater examination of pathways or gene sets. These approaches
have been quite fruitful for some studies and need to be employed in analyses of
alcohol-related traits and phenotypes.

Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases

ALD is a complex, multi-factorial disease where interactions between genetic susceptibility and the environment precipitate the phenotype. While a compelling role for a few variants across ethnicities is reported (PNPLA3), conflicting results are reported for other genes. Identifying the comprehensive genetic susceptibility to the risk of developing ALD (Figure 3) and developing algorithms that aid in identifying individuals at-risk of ALD may be beneficial in reducing the burden of the disease. In addition, routing genotyping of risk variants predictive of developing the severe disease as part of diagnostic workup aids in identifying this subset of patients who may require aggressive treatment.

  • Their mission is not just to understand the genetics of alcohol use disorder but also to provide resources and support for those struggling with substance abuse.
  • The researchers recommend that individuals with lower income or education levels might warrant additional screening by clinicians to evaluate their alcohol consumption and identify related conditions.
  • An intervention from loved ones can help some people recognize and accept that they need professional help.

Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child. It’s difficult to determine the precise contribution Genetics of Alcoholism of gene and environmental interactions in alcohol use disorders. However, the environment tends to have a stronger influence on the development of alcohol and drug abuse than genetics. Environmental factors also account for the risk of alcohol and drug abuse.2 Scientists are learning more about how epigenetics affect our risk of developing AUD.

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