Novel haplotypes of genetic polymorphisms in alcohol metabolizing enzymes in Kampala, Uganda

Five SNPs: ADH1B (rs1229984 and rs2066702), ADH1C (rs1693482 and rs698) and ALDH2 (rs671) were analyzed by PCR-restriction fragment length polymorphism assays in 250 samples. The frequencies of the fast-metabolizing alleles ADH1C*1, ADH1B*3, and ADH1B*2 were 49.6%, 18.2% and 0.2% respectively. The nonprotective allele ADH1B*1 had a high frequency of 81.6% and ADH1C*2 was 10.6%. A novel allele ADH1C*new (Arg271Val349) comprising G at ADH1C rs1693482and G at ADH1C rs698 was identified with a frequency of 39.8%. Of the seven ADH1B-ADH1C haplotype combinations identified, ADH1B*1-ADH1C*1 was the most prevalent (48.4%). Notably ADH1B*1-ADH1C* new, had the second highest frequency (25.2%). Our study provides the first data on novelADH1B-ADH1C haplotypes in alcohol metabolizing genes in the Ugandan population.