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Disease Markers
Volume 31 (2011), Issue 5, Pages 267-277

Combined Effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 Alleles on Alcoholism and Chronic Liver Diseases

Réka Tóth,1,2 Szilvia Fiatal,1,2 Beáta Petrovski,1 Martin McKee,3 and Róza Ádány1,2

1University of Debrecen, Medical and Health Science Center, Faculty of Public Health, Department of Preventive Medicine, Debrecen, Hungary
2Public Health Research Group of the Hungarian Academy of Sciences, Faculty of Public Health, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary
3London School of Hygiene and Tropical Medicine, London, UK

Received 14 October 2011; Accepted 14 October 2011

Copyright © 2011 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase polymorphisms (Arg48His and Arg370Cys in ADH1B, Arg272Gln and Ile350Val in ADH1C) on the alcohol use habits, alcohol dependence and chronic liver diseases in Hungary.

The study included men, aged 45–64 years. Altogether, 241 cases with chronic liver disease (CLD) and 666 randomly selected controls without CLD were analysed for all four polymorphisms. Associations between the polymorphisms, individually, and in combination, and excessive and problem drinking and CLD, were assessed using logistic regression.

In this study we have identified a novel mutation, called ADH1B Arg370His. The ADH1C Arg272Gln and Ile350Val showed almost complete linkage. The 272Gln/350Val allele increased the risk of excessive and problem drinking in homozygous form (OR = 1.582, p = 0.035, CI = 1.034–2.421, OR = 1.780, p = 0.016, CI = 1.113–2.848, respectively). The joint analysis showed that when combined with the wild type ADH1C Arg272/Ile350 allele, the ADH1B 48His is protective against CLD (OR = 0.368, p = 0.019, CI = 0.159–0.851).

The results obtained in the study help not only to clarify the effects of different ADH SNPs but to better understand how these polymorphisms modify each other’s effects in the development of alcoholism and related diseases.