<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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 of SCLO1B1 alleles was determined at seven variant sites (c.388A>G, c.521T>C, c.571T>C, c.597C>T, c.1086C>T, c.1463G>C and c.*439T>G) in 266 Macedonians and 94 Albanians using the TaqMan allelic discrimination assay. No significant difference in the frequencies of the single nucleotide polymorphisms (SNPs) was observed between these populations. The frequency of the c.521T>C SNP was the lowest (&lt;13.7 and 12.2%, respectively), while the frequencies of all other SNP alleles were above 40.0%. Variant alleles of c.1463G>C and c.1086 C>T SNPs were not identified in either ethnic group. The haplotype analysis revealed 20 and 21 different haplotypes in the Macedonian and Albanian population, respectively. The most common haplotype in both ethnic groups, *1J/*1K/*1L, had a frequency of 39.0% and 26.6%, respectively. In both populations, the variant alleles of the functionally significant c.521T>C and c.388A>G SNPs existed in one major haplotype (*15/*16/*17), with a frequency of 8.6 and 2.4% in the Macedonian and Albanian subjects, respectively. In conclusion, sequence variations of the SLCO1B1 gene in the studied populations occur at high frequencies, which are similar to that of the Caucasian population. Further studies are needed to evaluate the clinical significance of these SNPs and/ or the major SLCO1B1 haplotypes they form for a large number of substrates and for susceptibility to certain diseases.</p></abstract>

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 of SCLO1B1 alleles was determined at seven variant sites (c.388A>G, c.521T>C, c.571T>C, c.597C>T, c.1086C>T, c.1463G>C and c.*439T>G) in 266 Macedonians and 94 Albanians using the TaqMan allelic discrimination assay. No significant difference in the frequencies of the single nucleotide polymorphisms (SNPs) was observed between these populations. The frequency of the c.521T>C SNP was the lowest (<13.7 and 12.2%, respectively), while the frequencies of all other SNP alleles were above 40.0%. Variant alleles of c.1463G>C and c.1086 C>T SNPs were not identified in either ethnic group. The haplotype analysis revealed 20 and 21 different haplotypes in the Macedonian and Albanian population, respectively. The most common haplotype in both ethnic groups, *1J/*1K/*1L, had a frequency of 39.0% and 26.6%, respectively. In both populations, the variant alleles of the functionally significant c.521T>C and c.388A>G SNPs existed in one major haplotype (*15/*16/*17), with a frequency of 8.6 and 2.4% in the Macedonian and Albanian subjects, respectively. In conclusion, sequence variations of the SLCO1B1 gene in the studied populations occur at high frequencies, which are similar to that of the Caucasian population. Further studies are needed to evaluate the clinical significance of these SNPs and/ or the major SLCO1B1 haplotypes they form for a large number of substrates and for susceptibility to certain diseases.

Frequencies of Single-Nucleotide Polymorphisms and Haplotypes of the SLCO1B1 Gene in Selected Populations of the Western Balkans

Faculty of Medicine, University “Hasan Prishtina”, Blv. “Mother Theresa” NN, 10 000 Prishtina, Republic of Kosovo

Faculty of Pharmacy, Center for Biomolecular Pharmaceutical Analyses, University “Ss Cyril and Methodius” in Skopje, Blv. “Mother Theresa” 47, 1000 Skopje, Republic of Macedonia

University Clinic of Cardiology, University “Ss Cyril and Methodius” in Skopje, Blv. “Mother Theresa” 17, 1000 Skopje, Republic of Macedonia

Faculty of Medicine, Institute of Preclinical and Clinical Pharmacology with Toxicology, University “Ss Cyril and Methodius” in Skopje, St. “50th Division” 6, 1000 Skopje, Republic of Macedonia

Clinic of Cardiology, University Clinical Center, University “Hasan Prishtina”, Blv. “Mother Theresa” NN, 10 000, Prishtina, Republic of Kosovo

Faculty of Pharmacy, Center for Biomolecular Pharmaceutical Analyses, University “Ss Cyril and Methodius” in Skopje, Blv. “Mother Theresa” 47, 1000 Skopje, Republic of Macedonia. Tel: +389-2-3126-032. Fax: +389-2-3132-015

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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 of SCLO1B1 alleles was determined at seven variant sites (c.388A>G, c.521T>C, c.571T>C, c.597C>T, c.1086C>T, c.1463G>C and c.*439T>G) in 266 Macedonians and 94 Albanians using the TaqMan allelic discrimination assay. No significant difference in the frequencies of the single nucleotide polymorphisms (SNPs) was observed between these populations. The frequency of the c.521T>C SNP was the lowest (C and c.1086 C>T SNPs were not identified in either ethnic group. The haplotype analysis revealed 20 and 21 different haplotypes in the Macedonian and Albanian population, respectively. The most common haplotype in both ethnic groups, *1J/*1K/*1L, had a frequency of 39.0% and 26.6%, respectively. In both populations, the variant alleles of the functionally significant c.521T>C and c.388A>G SNPs existed in one major haplotype (*15/*16/*17), with a frequency of 8.6 and 2.4% in the Macedonian and Albanian subjects, respectively. In conclusion, sequence variations of the SLCO1B1 gene in the studied populations occur at high frequencies, which are similar to that of the Caucasian population. Further studies are needed to evaluate the clinical significance of these SNPs and/ or the major SLCO1B1 haplotypes they form for a large number of substrates and for susceptibility to certain diseases.

As a membrane influx transporter, organic anion- transporting polypeptide 1B1 (OATP1B1) regulates the cellular uptake of a number of endogenous compounds and...

Frequencies of Single-Nucleotide Polymorphisms and Haplotypes of the SLCO1B1 Gene in Selected Populations of the Western Balkans

Data publikacji: 30 gru 2015

Zakres stron: 5 - 22

DOI: https://doi.org/10.1515/bjmg-2015-0001

Słowa kluczowe
Haplotypes, organic anion-transporting polypeptide 1B1 (OATP1B1), solute carrier organic anion-transporter family member 1B1 (SLCO1B1) gene, single nucleotide polymorphisms (SNPs), Western Balkan populations

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Frequencies of Single-Nucleotide Polymorphisms and Haplotypes of the SLCO1B1 Gene in Selected Populations of the Western Balkans

Data publikacji: 30 gru 2015

Zakres stron: 5 - 22

DOI: https://doi.org/10.1515/bjmg-2015-0001

Słowa kluczoweHaplotypes, organic anion-transporting polypeptide 1B1 (OATP1B1), solute carrier organic anion-transporter family member 1B1 (SLCO1B1) gene, single nucleotide polymorphisms (SNPs), Western Balkan populations

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Słowa kluczowe
Haplotypes, organic anion-transporting polypeptide 1B1 (OATP1B1), solute carrier organic anion-transporter family member 1B1 (SLCO1B1) gene, single nucleotide polymorphisms (SNPs), Western Balkan populations