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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2014-06-01
|
| Series: | Iranian Journal of Basic Medical Sciences |
| Subjects: | |
| Online Access: | http://ijbms.mums.ac.ir/pdf_2929_abeca501d9b5d89c21ffc66a9cc6fcfc.html |
| _version_ | 1818959768371331072 |
|---|---|
| author | Tausif Ahmed Rajput Abdul Khaliq Naveed Shakir Khan Zia-Ur Rehman Farooqi |
| author_facet | Tausif Ahmed Rajput Abdul Khaliq Naveed Shakir Khan Zia-Ur Rehman Farooqi |
| author_sort | Tausif Ahmed Rajput |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-12-20T11:46:53Z |
| format | Article |
| id | doaj.art-c882a14c275f4b31a1de4386e7c786b5 |
| institution | Directory Open Access Journal |
| issn | 2008-3866 2008-3874 |
| language | English |
| last_indexed | 2024-12-20T11:46:53Z |
| publishDate | 2014-06-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Basic Medical Sciences |
| spelling | doaj.art-c882a14c275f4b31a1de4386e7c786b52022-12-21T19:41:51ZengMashhad University of Medical SciencesIranian Journal of Basic Medical Sciences2008-38662008-38742014-06-011764414472929Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani populationTausif Ahmed Rajput0Abdul Khaliq Naveed1Shakir Khan2Zia-Ur Rehman Farooqi3Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, PakistanDepartment of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, PakistanDepartment of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, PakistanDepartment of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, PakistanObjective(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 pharmacodynamichttp://ijbms.mums.ac.ir/pdf_2929_abeca501d9b5d89c21ffc66a9cc6fcfc.htmlHaplotypeOATP1B1Single nucleotide polymorphismSLCO1B1 |
| spellingShingle | Tausif Ahmed Rajput Abdul Khaliq Naveed Shakir Khan 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 Haplotype OATP1B1 Single nucleotide polymorphism SLCO1B1 |
| 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 |
| title_full | Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani population |
| title_fullStr | Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani population |
| title_full_unstemmed | Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani population |
| title_short | Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani population |
| title_sort | frequencies of two functionally significant snps and their haplotypes of organic anion transporting polypeptide 1b1 slco1b1 gene in six ethnic groups of pakistani population |
| topic | Haplotype OATP1B1 Single nucleotide polymorphism SLCO1B1 |
| url | http://ijbms.mums.ac.ir/pdf_2929_abeca501d9b5d89c21ffc66a9cc6fcfc.html |
| work_keys_str_mv | AT tausifahmedrajput frequenciesoftwofunctionallysignificantsnpsandtheirhaplotypesoforganicaniontransportingpolypeptide1b1slco1b1geneinsixethnicgroupsofpakistanipopulation AT abdulkhaliqnaveed frequenciesoftwofunctionallysignificantsnpsandtheirhaplotypesoforganicaniontransportingpolypeptide1b1slco1b1geneinsixethnicgroupsofpakistanipopulation AT shakirkhan frequenciesoftwofunctionallysignificantsnpsandtheirhaplotypesoforganicaniontransportingpolypeptide1b1slco1b1geneinsixethnicgroupsofpakistanipopulation AT ziaurrehmanfarooqi frequenciesoftwofunctionallysignificantsnpsandtheirhaplotypesoforganicaniontransportingpolypeptide1b1slco1b1geneinsixethnicgroupsofpakistanipopulation |