Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani population

Authors

  • Abdul Khaliq Naveed Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
  • Shakir Khan Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
  • Tausif Ahmed Rajput Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
  • Zia-Ur Rehman Farooqi Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
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

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

frequencies of two functionally significant snps and their haplotypes of organic anion transporting polypeptide 1b1 slco1b1 gene in six ethnic groups of pakistani population

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 ...

full text

Methotrexate pharmacokinetics in transgenic mice with liver-specific expression of human organic anion-transporting polypeptide 1B1 (SLCO1B1).

Human organic anion-transporting polypeptide 1B1 (OATP1B1) is an important hepatic uptake transporter that can transport a wide variety of drugs. In the present study, we have generated and characterized a transgenic mouse model with specific and functional expression of human OATP1B1 (SLCO1B1) in the liver. Immunohistochemical staining revealed basolateral localization of transgenic OATP1B1 in...

full text

Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans

As a membrane influx transporter, organic anion-transporting polypeptide 1B1 (OATP1B1) regulates the cellular uptake of a number of endogenous compounds and drugs. The aim of this study was to characterize the diversity of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encoding this transporter in two ethnic groups populating the Western Balkans. The distribution ...

full text

Inhibition of Human Organic Anion Transporting Polypeptide (OATP) -1B1 and -1B3 by Tyrosine Kinase Inhibitors

full text

Cysteine Scanning Mutagenesis of Transmembrane Domain 10 in Organic Anion Transporting Polypeptide 1B1

Organic anion transporting polypeptide (OATP) 1B1 is an important drug transporter expressed in human hepatocytes. Previous studies have indicated that transmembrane (TM) domain 2, 6, 8, 9, and in particular 10 might be part of the substrate binding site/translocation pathway. To explore which amino acids in TM10 are important for substrate transport, we mutated 34 amino acids individually to c...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 17  issue 6

pages  441- 447

publication date 2014-06-01

{@ msg @}

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023