Aims: To determine the prevalence of the novel CYP2B6 functional polymorphism 983T>C in Papua New Guinea where HIV/AIDS poses a significant health problem.
Method: We genotyped Papua New Guineans (PNG, n = 174), West Africans (WA, n = 170), and North Americans (NA, n = 361).
Results: The polymorphism was absent in PNG, while its overall frequency was 4.7% in WA. Among NA, the polymorphism was present in African-Americans (7.5%) and Hispanic-Americans (1.1%) but not in Caucasian-Americans and Asian-Americans. Haplotype analysis indicated that 983T>C was present alone as the CYP2B6*18 allele in WA and African-Americans.
Conclusions: Significant interethnic differences occur at the CYP2B6 locus, which may influence treatment outcomes with efavirenz.