Kulsoom Farhat, Akbar Waheed, Azhar Hussain, Anwar Kamal Pasha, Muhammad Ismail.
G2677T Polymorphism of the ABCB1 Gene in a Pakistani Population in Comparison to the Published Data on Asians and Europeans.
Ann Pak Inst Med Sci Jan ;13(2):160-3.

Background: The expression and function of P-glycoprotein (P-gp) is markedly affected by the polymorphisms in ATP-binding Cassette member 1 (ABCB1) gene. This transporter has many drugs as substrates and this genetic variability may be responsible for the inter-individual variability. Objective: To investigate the frequency of G2677T- a single nucleotide polymorphism of the ABCB1 gene coding for P-gp for the first time in Pakistani population and compare it with the published data available for other populations. 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). Methodology: DNA samples were obtained from 490 subjects. The polymerase chain reaction was followed by restriction fragment length polymorphism to determine the frequencies of the genotypes. This frequency observed in our population was also compared with the published data on Asians and Europeans. Results: The frequencies of ABCB1 G2677T genotypes were as follows: 14.9% for GG, 47.3% for GT and 37.8% for TT. Conclusion: The homozygous TT genotype frequency is much higher in Asian populations than in European populations. In contrast, the wild-type GG genotype is more frequent in European populations than in Asian populations.

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