Abstract:
: CYP2D6 belongs to a family of Cytochrome P450 and is involved in metabolism of a number of commonly
prescribed drugs. This study was designed to identify *4 allelic frequency of CYP2D6 in Pakistani population. The
ethno-geographic variations in the CYP2D6 alleles are responsible for varied expression of this enzyme and thus
influence the metabolic rate and efficacy of prescribed drugs. In total, 976 volunteers belonging to 16 different ethnic
groups of Pakistan were screened for CYP2D6*4 polymorphism. The *4 allele was detected in all the ethnic groups with
varied frequency ranging from 3.73%-13.64% and an overall average of 7.22% in different ethnic groups of the
population. Maximum frequency was detected in northern Pakistani population including Meo (13.64%), Punjabi
(11.96%) and Pathan (10.42%). Low frequency (<4%) of*4 polymorphism was observed in Kalash and Makrani groups,
whereas an intermediate frequency (5-9%) was observed in all the other ethnic groups. The data indicates that despite
ethnic diversity poor metabolizers in Pakistani population are expected to carry CYP2D6*4 allele at a relatively higher
frequency than most other Asian populations. (Word count = 186)
