NDLI: Extreme differences in SLCO1B3 functional polymorphisms in Roma and Hungarian populations.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Nagy, Agnes Szalai, Renata Magyari, Lili Bene, Judit Toth, Kalman Melegh, Bela
Spatial Coverage	Hungary
Description	Author Affiliation: Nagy A ( 1st Department of Internal Medicine, University of Pecs, Ifjusag 13, H-7624 Pecs, Hungary. Electronic address: m.nagy.agnes@pte.hu.); Szalai R ( Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary); Magyari L ( Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary); Bene J ( Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: bene.judit@pte.hu.); Toth K ( 1st Department of Internal Medicine, University of Pecs, Ifjusag 13, H-7624 Pecs, Hungary. Electronic address: toth.kalman@pte.hu.); Melegh B ( Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary)
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.
File Format	HTM / HTML
ISSN	13826689
Issue Number	3
Volume Number	39
e-ISSN	18727077
Journal	Environmental Toxicology and Pharmacology
Language	English
Publisher	Elsevier
Publisher Date	2015-05-01
Publisher Place	Netherlands
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Environmental Health Discipline Pharmacology European Continental Ancestry Group Genetics Organic Anion Transporters, Sodium-independent Polymorphism, Single Nucleotide Gypsies Adult Ethnology Female Gene Frequency Homozygote Humans Hungary Linkage Disequilibrium Male Middle Aged Polymorphism, Restriction Fragment Length Sequence Analysis, Dna Methods Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Health, Toxicology and Mutagenesis Medicine Toxicology Pharmacology

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