title: Single nucleotide polymorphisms of the pregnane x receptor gene in Han Chinese and a comparison with other ethnic populations.
abstract: The pregnane X receptor (PXR/NR1I2) gene is a master regulator for a number of cytochrome P450s (CYPs) and drug transporters. This study aimed to detect the single nucleotide polymorphisms (SNPs) of the PXR gene in Han Chinese (n = 186) and to compare the frequencies of polymorphisms of the PXR gene with those in Caucasian and African Americans reported in the literature. The SNPs of the PXR gene were analyzed using the polymerase chain reaction (PCR) and direct sequencing analysis. The mutant frequencies of A11156C and T11193C in Han Chinese were 55% (95% confidence interval (CI): 0.49-0.61) and 59% (95% CI: 0.52-0.64), respectively, higher than those of Caucasian Americans (16 and 16%, respectively) and African Americans (33 and 30%, respectively). However, the reported SNPs in exons 2 and 4 (PXR*2,*3,*4,*6,*9,*10,and *11) were not detected in Han Chinese. These results indicate that there are marked differences in the mutant frequencies of A11156C and T11193C of PXR between Han Chinese and other ethnic groups. The mutant frequency in the coding region (exons 2 and 4) of PXR was very low in Han Chinese. Further studies are needed to determine the impact of common SNPs of PXR in Han Chinese and other ethnic populations on the phenotypic activity of cytochrome P450s and drug transporters transactivated by PXR.
authors.affiliation: Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou, China.
authors.forename: Xue-Ding
authors.initials: XD
authors.lastname: Wang
authors.forename: Xiao-Ying
authors.initials: XY
authors.lastname: Deng
authors.forename: Jie
authors.initials: J
authors.lastname: Chen
authors.forename: Jia-Li
authors.initials: JL
authors.lastname: Li
authors.forename: Xiao
authors.initials: X
authors.lastname: Chen
authors.forename: Li-Zi
authors.initials: LZ
authors.lastname: Zhao
authors.forename: Yan
authors.initials: Y
authors.lastname: Lu
authors.forename: Balram
authors.initials: B
authors.lastname: Chowbay
authors.forename: Qi-Biao
authors.initials: QB
authors.lastname: Su
authors.forename: Min
authors.initials: M
authors.lastname: Huang
authors.forename: Shu-Feng
authors.initials: SF
authors.lastname: Zhou
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002681:China; D005091:Exons; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000077297:Pregnane X Receptor; D011987:Receptors, Steroid / Q000235:genetics*; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: C000625852:NR1I2 protein, human; D000077297:Pregnane X Receptor; D011987:Receptors, Steroid