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To determine the role of the CYP2E1 gene, located on chromosome 10q, in an individual’s level of response to alcohol. This study builds on previous work published by this group.

Using a family-based approach, the study authors combined genotyping data from microsatellite markers as well as SNPs for 238 sibling-pairs. Around 100 cases from these families that showed strong evidence for linkage to chromosome 10q also had their CYP2E1 gene exons resequenced. To determine alcohol response, an alcohol challenge experiment was conducted with each participant’s response measured using the Subjective High Assessment Scale (SHAS) questionnaire.

The results show that alcohol tolerance, as measured by the SHAS questionnaire, is linked to the chromosome 10q region in this study of college students and their families. The CYP2E1 gene, a gene known to be involved in ethanol metabolism, is located on chromosome 10q. The SNP rs10776687 showed the greatest association although it was only able to account for a small fraction (4.6%) of the variability observed in the SHAS scores. Despite resequencing the CYP2E1 gene, the study authors were unable to identify any variants that would affect the CYP2E1 protein and how it works.

The study authors state that “sequence changes in or near CYP2E1 affect the level of response to alcohol providing a predictor of risk to alcoholism.” They also predict that “drugs that affect the expression of this gene and, subsequently, the perception of alcohol, could reduce intoxication or limit consumption and thus moderate the development of alcoholism.”

This study shows an association implicating chromosome 10q and the CYP2E1 gene on alcohol tolerance as measured by the SHAS questionnaire. The study authors build on the premise that an individual’s level of response to alcohol during an early experience with alcohol will affect their risk of alcoholism and suggest that this gene can be used as a predictor of alcoholism. This study only looked at the level of response to alcohol and not the risk of alcoholism itself and so claims that the CYP2E1 gene can be used as a predictor of alcoholism is premature. The study is also limited in size and was conducted on a USA-based college student population and their families and so may not relevant to the general population. These results should therefore be independently replicated in other settings as well as in larger samples before any firm claims are made.