FREQUENCY OF COMMON ABCB1 GENE VARIANT C3435T POLYMORPHISM IN PAKISTANI POPULATION

ABCB1 Gene Variant in Pakistani Population

Abstract

Objective: To determine the frequency of the C3435T; a single nucleotide polymorphism of the ABCB1 gene for the first time in Pakistani population and compare it with the data available from other populations.

Study Design: A cross-sectional study.

Place and Duration of Study: Sampling was carried out at Combined Military Hospital, Rawalpindi from August 2012 to May 2013 and institute of Biomedical and Genetic Engineering (IBGE).

Material and Methods: The genotype frequency of C3435T polymorphism of ABCB1 gene was investigated in 491 Pakistani subjects. This frequency observed in our population was also compared with the published data on Asians and Caucasians.

Results: The distribution of frequencies of C3435T genotypes in our study population were; CC 7.1%, CT 59.1% and TT 33.8%. The Pakistanis differed significantly from Asian populations in the distribution of the TT genotype of C3435T ABCB1 (p<0.05). The study population also differ significantly in the distribution of CC genotype from rest of the populations compared (p<0.05).The data obtained may give the basis for predicting effects of drugs that are substrates for ABCB1 in Pakistani population and may be useful for individualized therapy of some diseases.