CYP2B6983T>C polymorphism is prevalent in West Africa but absent in Papua New Guinea: implications for HIV/AIDS treatment

What is already known about this subject • The novelCYP2B6functional polymorphism 983T>C (either alone asCYP2B6*18or linked with 785A>G as theCYP2B6*16allele) was found in Africans and African‐Americans but not in Caucasians and Asians. • The polymorphism by itself and together with 516G>T (the key polymorphism in the most frequent variant alleleCYP2B6*6) was associated with significantly higher mean plasma efavirenz concentrations in the African HIV patients. • In Papua New Guinea, the HIV/AIDS epidemic is escalating,CYP2B6*6is highly prevalent, and the prevalence of 983T>C is not known. What this study adds • CYP2B6983T>C is absent in the Papua New Guinea population. • The outcome of treatment with efavirenz may prove different in Papua New Guineans ([CYP2B6*6 +][983T>C –]) compared with Africans or African‐Americans ([CYP2B6*6 +][983T>C +]). AimsTo determine the prevalence of the novelCYP2B6functional polymorphism 983T>C in Papua New Guinea where HIV/AIDS poses a significant health problem. MethodWe genotyped Papua New Guineans (PNG,n = 174), West Africans (WA,n = 170), and North Americans (NA,n = 361). ResultsThe 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 theCYP2B6*18allele in WA and African‐Americans. ConclusionsSignificant interethnic differences occur at theCYP2B6locus, which may influence treatment outcomes with efavirenz.