FREQUENCIES OF TWO FUNCTIONALLY SIGNIFICANT SNPS AND THEIR HAPLOTYPES OF ORGANIC ANION TRANSPORTING POLYPEPTIDE 1B1 SLCO1B1 GENE IN SIX ETHNIC GROUPS OF PAKISTANI POPULATION

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RAJPUT TAUSIF AHMED; NAVEED ABDUL KHALIQ; KHAN SHAKIR; FAROOQI ZIA UR REHMAN

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Journal: Iranian Journal of Basic Medical Sciences Year:2014 | Volume:17 | Issue:6 Page(s): 441-447

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Title

FREQUENCIES OF TWO FUNCTIONALLY SIGNIFICANT SNPS AND THEIR HAPLOTYPES OF ORGANIC ANION TRANSPORTING POLYPEPTIDE 1B1 SLCO1B1 GENE IN SIX ETHNIC GROUPS OF PAKISTANI POPULATION

Author(s)

RAJPUT TAUSIF AHMED | NAVEED ABDUL KHALIQ | KHAN SHAKIR | FAROOQI ZIA UR REHMAN | Issue Writer Certificate

Keywords

HAPLOTYPE

OATP1B1

SINGLE NUCLEOTIDE POLYMORPHISM

SLCO1B1

Abstract

Objective(s): Organic anion transporter polypeptide 1B1 (OATP1B1) encoded by solute carrier organic transporter 1B1 (SLCO1B1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. Aim of this study was to investigate the frequencies of functionally significant SNPs (388A>G and 521T>C) and their HAPLOTYPEs in 6 ethnic groups of Pakistani population through the development of rapid and efficient Tetra amplification refractory mutation system (T. ARMS) genotyping assay.Materials and Methods: Frequencies of alleles, genotype, and HAPLOTYPEs of two functionally significant SINGLE NUCLEOTIDE POLYMORPHISM in 180 healthy Pakistani subjects and distributions in six ethnic groups by using a single step T. ARMS genotyping assay.Results: The allelic frequency for 388A>G SNP was 50% in total Pakistani population with distributions of 9.7%, 15.1%, 19.4%, 16.1%, 18.3%, and 21.5% in Punjabi, Sindhi, Balouchi, Pathan, Kashmiri and Hazara/Baltistan groups respectively; and for 521T>C SNP it was 23.9% in total Pakistani population with distributions of 11.1%, 8.9%, 15.6%, 11.1%, 31.1% and 22.2% in Punjabi, Sindhi, Balouchi, Pathan, Kashmiri, and Hazara/Baltistan groups. Both functionally significant SNPs occurred in four major HAPLOTYPEs with a frequency of 35.5% for 388A/521T (*1A), 40.5% for 388G/521T (*1B), 14.4% for 388A/521C (*5), and 9.4% for 388G/521C (*15) with varying distributions among six ethnic groups.Conclusion: The 388A>G and 521T>C genotypes and corresponding HAPLOTYPEs are present at varying frequencies in various ethnic groups of Pakistani population. Pharmacokinetic and pharmacodynamic profiling is needed to assess and characterize the effects of these HAPLOTYPEs in our population.

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APA: Copy

RAJPUT, TAUSIF AHMED, NAVEED, ABDUL KHALIQ, KHAN, SHAKIR, & FAROOQI, ZIA UR REHMAN. (2014). FREQUENCIES OF TWO FUNCTIONALLY SIGNIFICANT SNPS AND THEIR HAPLOTYPES OF ORGANIC ANION TRANSPORTING POLYPEPTIDE 1B1 SLCO1B1 GENE IN SIX ETHNIC GROUPS OF PAKISTANI POPULATION. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 17(6), 441-447. SID. https://sid.ir/paper/631161/en

Vancouver: Copy

RAJPUT TAUSIF AHMED, NAVEED ABDUL KHALIQ, KHAN SHAKIR, FAROOQI ZIA UR REHMAN. FREQUENCIES OF TWO FUNCTIONALLY SIGNIFICANT SNPS AND THEIR HAPLOTYPES OF ORGANIC ANION TRANSPORTING POLYPEPTIDE 1B1 SLCO1B1 GENE IN SIX ETHNIC GROUPS OF PAKISTANI POPULATION. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES[Internet]. 2014;17(6):441-447. Available from: https://sid.ir/paper/631161/en

IEEE: Copy

TAUSIF AHMED RAJPUT, ABDUL KHALIQ NAVEED, SHAKIR KHAN, and ZIA UR REHMAN FAROOQI, “FREQUENCIES OF TWO FUNCTIONALLY SIGNIFICANT SNPS AND THEIR HAPLOTYPES OF ORGANIC ANION TRANSPORTING POLYPEPTIDE 1B1 SLCO1B1 GENE IN SIX ETHNIC GROUPS OF PAKISTANI POPULATION,” IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, vol. 17, no. 6, pp. 441–447, 2014, [Online]. Available: https://sid.ir/paper/631161/en

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