1st Department of Internal Medicine, University of Pecs, Ifjusag 13, H-7624 Pecs, Hungary.
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.
Environ Toxicol Pharmacol. 2015 May;39(3):1246-51. doi: 10.1016/j.etap.2015.04.019. Epub 2015 May 8.
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.
SLCO1B3 转运体的变异与药物的处置和摄取有关，并且在不同人群之间具有高度的异质性。通过 PCR-RFLP 分析和直接测序，对 467 名罗姆人和 448 名匈牙利人进行了 SLCO1B3 c.334T>G 和 c.1683-5676A>G 变异等位基因的基因分型。我们发现罗姆人和匈牙利人之间 SLCO1B3 334GG（41.54% vs. 8.04%，p<0.001）和 1683-5676GG（0.43% vs. 2.01%，p=0.028）纯合变异基因型的频率存在显著差异。与罗姆人相比，匈牙利人 SLCO1B3 1683-5676G 等位基因频率显著增加（15.07% vs. 3.43%，p≤0.001）。与匈牙利人相比，罗姆人 SLCO1B3 334G 等位基因的频率显著增加（70.56% vs. 52.23%，p=0.001）。在罗姆人和匈牙利人样本中，所研究的 SNP 之间的 LD 值分别为 80 和 90。我们的研究结果强调了罗姆人和匈牙利人之间显著的药物遗传学差异，这可能具有治疗意义。
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