Abstract
The derived human alcohol dehydrogenase (ADH)1B*48His allele of the ADH1B Arg48His polymorphism (rs1229984) has been identified as one component of an East Asian specific core haplotype that underwent recent positive selection. Our study has been extended to Southwest Asia and additional markers in East Asia. Fst values (Sewall Wright’s fixation index) and long-range haplotype analyses identify a strong signature of selection not only in East Asian but also in Southwest Asian populations. However, except for the ADH2B*48His allele, different core haplotypes occur in Southwest Asia compared to East Asia and the extended haplotypes also differ. Thus, the ADH1B*48His allele, as part of a core haplotype of 10 kb, has undergone recent rapid increases in frequency independently in the two regions after divergence of the respective populations. Emergence of agriculture may be the common factor underlying the evident selection.
Highlights
The human alcohol dehydrogenase (ADH) gene cluster has been widely studied for association with diseases, especially alcoholism [1,2,3] and for population diversity studies [4,5,6,7,8]
Different geographic regions differ in the frequencies of the genetic polymorphisms in ADH1B and ADH1C, the genes for the primary ethanol metabolizing enzymes [18,19]
We originally found that the ADH1B*48His allele reaches high frequencies in East Asia and in Southwest Asia, while the frequency of this derived allele remains lower between these two geographic regions [20,21]
Summary
The human alcohol dehydrogenase (ADH) gene cluster has been widely studied for association with diseases, especially alcoholism [1,2,3] and for population diversity studies [4,5,6,7,8]. We originally found that the ADH1B*48His allele reaches high frequencies in East Asia and in Southwest Asia, while the frequency of this derived allele remains lower between these two geographic regions [20,21]. Long-range haplotype (LRH) test for populations in Southwest Asia [22]. Considering the genetic proximity of Ethiopian Jews (ETJ) to those Southwest Asian well as the original geographic origins of Ashkenazi (ASH). Relative EHH (REHH) test, detects a rapid rise in haplotype frequency interpreted as detecting an positive selection thatselection has recently been rapidly driven to high frequency and tends and to lie on an allele under positive that has recently been rapidly driven to high frequency tends to extended with low diversity. Highlighted within the blue box, Southwest Asian populations show LD patterns similar to those of European and African populations
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