title: Frequencies of single-nucleotide polymorphisms of SLCO1A2, SLCO1B3 and SLCO2B1 genes in a Finnish population.
abstract: Organic anion transporting polypeptides 1A2, 1B3 and 2B1 (OATP1A2, OATP1B3 and OATP2B1) are expressed in tissues important for pharmacokinetics, and mediate the cellular influx of various endogenous and exogenous compounds, including drugs. The aim of the study was to investigate the frequencies of single-nucleotide polymorphisms (SNP) of SLCO1A2, SLCO1B3 and SLCO2B1 in a Finnish population. The distribution of nine non-synonymous SLCO1A2, SLCO1B3 and SLCO2B1 SNPs was determined in 552 healthy Finnish Caucasian participants by using allelic discrimination with TaqMan 5'nuclease assays. The SLCO1A2 c.38T>C (p.Ile13Thr) and c.516C>T (p.Glu172Asp) SNPs were found with variant allele frequencies of 12.9% (95% confidence interval: 11.0-15.0) and 7.2% (5.8-8.8). The variant allele frequencies of SLCO1B3 c.334T>G (p.Ser112Ala), c.699G>A (p.Met233Ile) and c.767G>C (p.Gly256Ala) were 77.0% (74.4-79.4), 76.9% (74.3-79.3) and 12.8% (10.9-14.9), respectively. None of the participants carried the SLCO1B3 c.1309G>A (p.Gly437Ser) SNP. The SLCO2B1 c.601G>A (p.Val201Met), c.935G>A (p.Arg312Gln) and c.1457C>T (p.Ser486Phe) variant allele frequencies were 2.1% (1.4-3.1), 13.6% (11.7-15.7) and 2.8% (2.0-4.0), respectively. The SLCO1B3 c.334T>G and c.699G>A SNPs were in a nearly complete linkage disequilibrium (r² = 0.99, D' = 1.00), all other SNP pairs showed only a weak correlation. In conclusion, non-synonymous sequence variations of SLCO1A2, SLCO1B3 and SLCO2B1 occur at high frequencies in the Finnish population.
authors.affiliation: Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Alli
authors.initials: A
authors.lastname: Laitinen
authors.forename: Mikko
authors.initials: M
authors.lastname: Niemi
mesh_terms: D005260:Female; D005387:Finland; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D027361:Organic Anion Transporters / Q000097:blood / Q000235:genetics*; D029362:Organic Anion Transporters, Sodium-Independent / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000074542:Solute Carrier Organic Anion Transporter Family Member 1B3
chemical_list: D027361:Organic Anion Transporters; D029362:Organic Anion Transporters, Sodium-Independent; C512988:SLCO1A2 protein, human; C421209:SLCO1B3 protein, human; C450859:SLCO2B1 protein, human; D000074542:Solute Carrier Organic Anion Transporter Family Member 1B3