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

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Microarrays, often called gene chips, can be used to detect a person’s gene variants as well as variations in gene activity and to produce a series of medical, psychiatric and behavioral recommendations that the individual may take or leave as he or she wishes. This use of scientific knowledge is surely inevitable, especially in free nations with capitalist economies, where it will be market-driven and competitive. The scientific and academic communities must therefore help guide this process by distinguishing true physiological relations from false claims and by encouraging socially responsible uses for these discoveries.


is alcoholism inherited

With the advent of microarrays that can measure hundreds of thousands tomillions of single nucleotide polymorphisms (SNPs) across the genome,genome-wide association studies (GWAS) have provided a relatively unbiased wayto identify specific genes that contribute to a phenotype. To date, GWAS havefocused on common variants, with allele frequencies of 5% or higher.Most GWAS are case-control studies or studies of quantitative traits inunrelated subjects, but family-based GWAS provide another approach. GWAS arebeginning to yield robust findings, although the experience in many diseases isthat very large numbers of subjects will be needed.

Twin studies

Examples of behavioral treatments are brief interventions and reinforcement approaches, treatments that build motivation and teach skills for coping and preventing a return to drinking, and mindfulness-based therapies. Health care professionals use criteria from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), to assess whether a person has AUD and to determine the severity, if the disorder is present. Severity is based on the number of criteria a person meets based on their symptoms—mild (2–3 criteria), moderate (4–5 criteria), or severe (6 or more criteria). A study in Sweden followed alcohol use in twins who were adopted as children and reared apart.

  • Although much work remains to be done, researchers already have made substantial progress.
  • As the field of psychiatry transitions to the DSM-5 criteria for AUD, there may also be changes in the functional variants identified by GWAS.
  • The Centers for Disease Control and Prevention (CDC) has reported that alcohol use contributes to approximately 88,000 deaths annually in the United States (Stahre et al., 2014), reflecting high morbidity and mortality.

Learn more about the genes associated with Alcohol use disorder

For instance, a growing body of research has revealed that some variants of genes that encode cell-surface docking sites for the protein GABA (gamma-aminobutyric acid), which carries signals between certain nerve cells, increase vulnerability to alcoholism. It modulates the activity of neurons by binding to GABA-specific receptors in their cell membranes and literally inhibiting their responsiveness to signaling. One class of these receptors, known as GABAA, is made of protein subunits arrayed around a channel that admits chloride ions into the cell. Variations in the GABRA2 gene, which encodes one of the GABAA receptor subunits, have been found to strongly influence an EEG endophenotype, known as the beta frequency, that appears to play a role in mediating neuronal disinhibition. Other than genetics, there are a number of risk factors for developing alcohol use disorder.

  • COGA researchers have also analyzed candidate genes—genes suspected to play a role in the development of alcoholism based on other studies.
  • Living with inherited mental health conditions may increase the likelihood of developing alcohol use disorder.
  • It is now appreciated that a whole spectrum of allele frequencies andeffect sizes may play roles, from common variations with small effects throughrare variants of large effect.
  • The genetic contributions to dependence identified so far affect many different aspects of human physiology, from alcohol metabolism to brain activity and taste perception just in the examples we have described.
  • Data collection, analysis, and/or storage for this study take place at nine sites across the United States.

Findings from the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC) Waves 1 and 2 have revealed that lifetime DSM-IV AUD is as high as 36.7% in persons aged 30–44, 42.0% in men compared to women (19.5%), and 34.1% in non-Hispanic whites (Grant et al., 2016). Furthermore, AUD frequently co-occurs with other psychiatric disorders, including mood and anxiety disorders (Regier et al., 1990), post-traumatic stress disorder (Sampson et al., 2015), and other substance use disorders (Kessler et al., 1997). These data highlight the heterogeneity of AUD and overlap with other psychiatric disorder that often also have strong genetic heritability estimates. Although studies spanning multiple approaches have suggested a genetic basis for AUD, identification of the genetic risk variants has been challenging. Some promising results are emerging from GWAS studies; however, larger sample sizes are needed to improve GWAS results and resolution. As the field of genetics is rapidly developing, whole genome sequencing could soon become the new standard of interrogation of the genes and neurobiological pathways which contribute to the complex phenotype of AUD.

is alcoholism inherited

is alcoholism inherited

To date, individual GWASstudies on alcohol dependence and related phenotypes have been relatively modestin size, and most do not reach genome-wide significance. This may reflect boththe limited sample sizes and the clinical and genetic heterogeneity of thedisease. As noted above, the functional ADH1B polymorphism isnot represented on GWAS platforms; GABA-receptor genes are often nominallysignificant but well below genome-wide significance in these studies. Thus, thegenes and SNPs found through GWAS have had little overlap with previous findingsbased on candidate genes/pathways and linkage analyses. There are several other genes that have been shown to contribute to the riskof alcohol dependence as well as key endophenotypes. In most cases, studiesrecruited families having multiple members with alcohol dependence; such familiesare likely to segregate variants that affect the risk of alcohol dependence.

Functional significance of GWAS variants

Factors like your environment and ability to handle situations triggering dependency are just as important as genetics. These are things that we can remain mindful of as we continue to develop an understanding of alcoholism on a personal basis. Genetic disorders are diagnosable conditions directly caused by genetic mutations that are inherited or occur later in life from environmental exposure.

  • While the underlying pathophysiology of AUD is poorly understood, there is substantial evidence for a genetic component; however, identification of universal genetic risk variants for AUD has been difficult.
  • Understanding of the genetic risk factors involved could be important to guide personalized treatments of patients who have already developed AUD and to inform the development of new pharmacological and other novel interventions.
  • As we have learned more about the role genes play in our health, researchers have discovered that different factors can alter the expression of our genes.
  • Research shows that genetics have somewhere between a 40% and 60% influence on addiction.
  • †Note that the official names of several ADH genes have been changed, and theliterature has been confused by some groups using non-standard names for some ofthe genes29.
  • The strongest evidence was for regions on chromosomes 1 and 7, with more modest evidence for a region on chromosome 2.
  • Nobody gets to be alcohol-dependent without making some poor choices, but clearly some people are more sensitive to alcohol than others in the same set of circumstances, and scientists are working to identify the sources of that vulnerability.

If your pattern of drinking results in repeated significant distress and problems functioning in your daily life, you likely have alcohol use disorder. However, even a mild disorder can escalate and lead to serious problems, so early treatment is important. Unhealthy alcohol use includes any alcohol use that puts your health or safety at risk or causes other alcohol-related problems. It also includes binge drinking — a pattern of drinking where a male has five or more drinks within two hours or a female has at least four drinks within two hours. Behavioral treatments—also known as alcohol counseling, or talk therapy, and provided by licensed therapists—are aimed at changing drinking behavior.

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