Effect of Genotype at ADH1B Alcoholdehydrogenase Gene on Level of cdt Alcohol Abuse Marker

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Abstract

Alcohol abuse poses an important challenge to public health and is associated with a shorter lifespan, numerous disorders, and social and economic problems. Methods to identify heavy drinkers are necessary for choosing the prevention and treatment strategies in medicine and are in demand in forensics. Alcohol consumption is often underestimated in self-reported data, and objective laboratory tests are therefore essential to employ in diagnosing chronic alcohol abuse and acute alcoholic excess. Carbohydrate-deficient transferrin (CDT) is one of the most specific biomarkers of alcohol abuse. CDT is a set of transferrin isoforms with a lower content of sialic acid residues and is found when glycosylation is impaired by ethanol metabolites. Oxidation of exogenous ethanol to acetaldehyde by alcohol dehydrogenase 1B (ADH1B) is a major pathway of ethanol metabolism. This study showed for the first time that carriers of the allele ADH1B*48His (rs1229984), which determines acetaldehyde production to higher concentrations, have greater CDT levels as compared with noncarriers, alcohol consumption being the same. The difference should be taken into account in medicine, forensics, and studies where Mendelian randomization with respect to the polymorphic locus rs1229984 is performed to address the effects of drinking alcohol.

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About the authors

A. A. Kim

Vavilov Institute of General Genetics, Russian Academy of Sciences

Email: rubanovich@vigg.ru
Russian Federation, Moscow, 119991

A. S. Gureev

Vavilov Institute of General Genetics, Russian Academy of Sciences

Email: rubanovich@vigg.ru
Russian Federation, Moscow, 119991

A. V. Rubanovich

Vavilov Institute of General Genetics, Russian Academy of Sciences

Author for correspondence.
Email: rubanovich@vigg.ru
Russian Federation, Moscow, 119991

S. A. Borinskaya

Vavilov Institute of General Genetics, Russian Academy of Sciences

Email: borinskaya@vigg.ru
Russian Federation, Moscow, 119991

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2. Fig. 1. Level of alcohol consumption depending on genotype. Gray bars – carriers of the ADH1B*Arg/Arg genotype, white – ADH1B*Arg/His.

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3. Fig. 2. CDT level depending on the ADH1B genotype in subgroups with different levels of alcohol consumption. Gray bars – carriers of the ADH1B*Arg/Arg genotype, white – ADH1B*Arg/His.

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