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芬兰人群中 SLCO1A2、SLCO1B3 和 SLCO2B1 基因的单核苷酸多态性频率。

Frequencies of single-nucleotide polymorphisms of SLCO1A2, SLCO1B3 and SLCO2B1 genes in a Finnish population.

机构信息

Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

出版信息

Basic Clin Pharmacol Toxicol. 2011 Jan;108(1):9-13. doi: 10.1111/j.1742-7843.2010.00605.x.

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.

摘要

有机阴离子转运多肽 1A2、1B3 和 2B1(OATP1A2、OATP1B3 和 OATP2B1)在对药代动力学很重要的组织中表达,并介导各种内源性和外源性化合物(包括药物)的细胞内摄取。本研究旨在调查芬兰人群中单核苷酸多态性(SNP)在 SLCO1A2、SLCO1B3 和 SLCO2B1 中的频率。通过 TaqMan 5' 核酸酶分析,在 552 名健康的芬兰白种人参与者中确定了 9 种非同义 SLCO1A2、SLCO1B3 和 SLCO2B1 SNPs 的分布。SLCO1A2 c.38T>C(p.Ile13Thr)和 c.516C>T(p.Glu172Asp)SNP 的变异等位基因频率分别为 12.9%(95%置信区间:11.0-15.0)和 7.2%(5.8-8.8)。SLCO1B3 c.334T>G(p.Ser112Ala)、c.699G>A(p.Met233Ile)和 c.767G>C(p.Gly256Ala)的变异等位基因频率分别为 77.0%(74.4-79.4)、76.9%(74.3-79.3)和 12.8%(10.9-14.9)。没有参与者携带 SLCO1B3 c.1309G>A(p.Gly437Ser)SNP。SLCO2B1 c.601G>A(p.Val201Met)、c.935G>A(p.Arg312Gln)和 c.1457C>T(p.Ser486Phe)的变异等位基因频率分别为 2.1%(1.4-3.1)、13.6%(11.7-15.7)和 2.8%(2.0-4.0)。SLCO1B3 c.334T>G 和 c.699G>A SNPs 几乎完全处于连锁不平衡状态(r²=0.99,D'=1.00),所有其他 SNP 对仅显示出较弱的相关性。总之,SLCO1A2、SLCO1B3 和 SLCO2B1 的非同义序列变异在芬兰人群中发生的频率很高。

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