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In order to comprehensively screen genetic variants leading to differential expression of the important human  ABCB1  gene in the primary drug-metabolizing organ,  ABCB1  mRNA expression levels were measured in 73 normal liver tissue samples from Chinese subjects. A set of Tag SNPs. were genotyped. In addition, imputation was performed within a 500 kb region around the  ABCB1  gene using the reference panels of 1,000 Genome project and HapMap III. Bayesian regression was used to assess the strength of associations by compute Bayes Factors for imputed SNPs. Through imputation and linkage disequilibrium analysis, the imputed loci rs28373093, rs1002205, rs1029421, rs2285647, and rs10235835, may represent independent and strong association signals. rs28373093, a polymorphism 1.5 kb upstream from the  ABCB1  transcription start site, has the strongest association. 2677 G>A/T and 3435C>T confer a clear gene-dosage effect on  ABCB1  mRNA expression. The systematic characterization of gene-wide common quantitative trait loci associated with  ABCB1  mRNA expression in normal liver tissues would provide the candidate markers to ABCB1-relevant clinical phenotypes in Chinese population.

Gene-Wide Characterization of Common Quantitative Trait Loci for ABCB1 mRNA Expression in Normal Liver Tissues in the Chinese Population