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Background: Genes ADH1B and ADH1C have certain functional SNPs that are related toalcoholism. The frequencies of these polymorphisms vary between populations, so studying themin populations made up of groups with different phylogeographic origins requires an individual-ized analysis of each group. In the Basque Country, various recently arrived foreign groups liveside by side with the original Southern European population, particularly North Africans fromMorocco and Hispanics from Ecuador. This study sets out to examine the distribution of the fre-quencies of alleles that encode alcohol dehydrogenase with different metabolization rates, ashigher rates make for greater susceptibility to alcoholism.Methods: Four SNPs: rs1229984, rs2066702, rs698, and rs1693482 using Taqman technologywith a Rt-PCR were studied in a sample of 114 European individuals originating from the BasqueCountry, 100 North Africans from Morocco, and 109 Hispanics from Ecuador. The allele andgenotype frequencies were calculated using Genepop v4.0. The most frequent haplotypes wereestimated using the ELB algorithm with Arlequin v3.01. A breakdown of the complete disequilib-rium commonly observed between the 2 missense polymorphisms that distinguish the commonADH1C alleles rs698 and rs1693482 was observed and confirmed by sequencing in 2 individualsfrom the Basque Country.Results: A higher frequency of protective allele ADH1C*1 was found in the North Africanpopulation group. Haplotype combinations are also studied, and the rare association of allelesADH1B*2–ADH1C*2 was observed in the Southern European group in the Basque Country,along with an allele not hitherto described in the ADH1C locus.Conclusions: This study provides the first data published on the allele and genotype frequenciesof the ADH1C locus in the Moroccan population and on the ADH1B and ADH1C loci in theEcuadorian population. The study shows differences in the distribution of the frequency of alleleADH1C*1 between the Basque Country and Moroccan populations, and a new allele notdescribed to date.Key Words: ADH1B, ADH1C, Alcoholism, Polymorphism, SNP, rs1229984, rs2066702, rs698,rs1693482, Basque Country, Morocco, Ecuador. |
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