Resequencing gene in Indian population: identified as the major reduced function allele.

The gene is highly polymorphic and harbors population specific alleles that define its predominant metabolizer phenotype. This study aimed to identify polymorphisms in Indian population owing to scarcity of CYP2D6 data in this population. The gene was resequenced in 105 south Indians using next generation sequencing technology and haplotypes were reconstructed. Four novel missense variants have been designated as , , and . The most common alleles were (42%), (32%), and (12.3%) and diplotypes were (26%), (11%), (10%) and (7%) accounting for high incidence of extensive metabolizers in Indians.