title: Extreme differences in SLCO1B3 functional polymorphisms in Roma and Hungarian populations.
abstract: Variants in SLCO1B3 transporter are linked to disposition and uptake of drugs and show high degree of heterogeneity between populations. A total of 467 Roma and 448 Hungarian subjects were genotyped for SLCO1B3 c.334T>G and c.1683-5676A>G variant alleles by PCR-RFLP assay and direct sequencing. We found significant differences in the frequencies of homozygous variant genotypes of SLCO1B3 334GG (41.54% vs. 8.04%, p<0.001) and 1683-5676GG (0.43% vs. 2.01%, p=0.028) between Romas and Hungarians. A significantly increased prevalence was found in SLCO1B3 1683-5676G allele frequency in Hungarians compared to the Roma population (15.07% vs. 3.43%, p≤0.001). The frequency of SLCO1B3 334G allele was significantly increased in Roma population compared to Hungarians (70.56% vs. 52.23%, p=0.001). The LD values between the examined SNPs were 80 and 90 in Roma and in Hungarian samples, respectively. Our results highlight notable pharmacogenetic differences between Roma and Hungarian populations, which may have therapeutic implications.
authors.affiliation: 1st Department of Internal Medicine, University of Pecs, Ifjusag 13, H-7624 Pecs, Hungary. Electronic address: m.nagy.agnes@pte.hu.
authors.forename: Agnes
authors.initials: A
authors.lastname: Nagy
authors.affiliation: Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Janos Szentagothai Research Centre, Human Genetic and Pharmacogenomic Research Group, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: szalai.renata@pte.hu.
authors.forename: Renata
authors.initials: R
authors.lastname: Szalai
authors.affiliation: Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Janos Szentagothai Research Centre, Human Genetic and Pharmacogenomic Research Group, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: magyari.lili@pte.hu.
authors.forename: Lili
authors.initials: L
authors.lastname: Magyari
authors.affiliation: Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: bene.judit@pte.hu.
authors.forename: Judit
authors.initials: J
authors.lastname: Bene
authors.affiliation: 1st Department of Internal Medicine, University of Pecs, Ifjusag 13, H-7624 Pecs, Hungary. Electronic address: toth.kalman@pte.hu.
authors.forename: Kalman
authors.initials: K
authors.lastname: Toth
authors.affiliation: Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Janos Szentagothai Research Centre, Human Genetic and Pharmacogenomic Research Group, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: melegh.bela@pte.hu.
authors.forename: Bela
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D006814:Hungary / Q000208:ethnology; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D029362:Organic Anion Transporters, Sodium-Independent / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D006178:Romani People / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D000074542:Solute Carrier Organic Anion Transporter Family Member 1B3; D044465:White People / Q000208:ethnology / Q000235:genetics*
chemical_list: D029362:Organic Anion Transporters, Sodium-Independent; C421209:SLCO1B3 protein, human; D000074542:Solute Carrier Organic Anion Transporter Family Member 1B3
keywords: Hungarian; Polymorphism; Roma; SLCO1B3