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Chunk #28 — Discussion

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The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population.
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The three SNPs that demonstrated association with alcohol consumption behaviour in this study have not previously been reported in the literature and their functionality is unclear; they are neither coding SNPs nor are they near alternative splice sites. Nonetheless, we believe that at the genotypic and/or allelic level, each SNP may influence transitions in drinking patterns and behaviour in our population, particularly the progression from problem to alcohol-dependent drinker. For example, the genotypic AUDIT score means of the 3' UTR SNP, rs348479, are 11.00 (these subjects are classified as control drinkers) and 19.33 (bordering between harmful and problem drinkers) for G/ G and T/T homozygotes, respectively. Furthermore, the three SNPs are in moderate LD (D' = 0.4 - 0.6), so it may be possible that the SNPs are in strong LD with an as yet ungenotyped polymorphism that is causal with respect to these alcohol-related phenotypes. An important question, with regard to the relevance of the present data, is the functionality of these polymorphisms; this needs to be settled in future studies.