Polymorphisms and phenotypic analysis of cytochrome P450 3A4 in the Uygur population in northwest China.
OBJECTIVE
Genetic polymorphisms in CYP3A4 can change its activity to a certain degree, thus leading to differences among different populations in drug efficacy or adverse drug reactions.


METHODS
The study was intended to validate the genetic polymorphisms in CYP3A4 in Uygur Chinese population, we sequenced and screened for genetic variants including 5'UTR, promoters, exons, introns, and 3'UTR region of the whole CYP3A4 gene in 100 unrelated, healthy.


RESULTS
Twenty-one genetic polymorphisms in CYP3A4, and nine of them were novel. We detected CYP3A4*8, a putative poor-metabolizer allele, with the frequency of 0.5% in Uygur population. Tfsitescan revealed that the density of transcription factor varied in the different promoter regions, among which some were key regions for transcription factor binding.


CONCLUSIONS
our results provide basic information about CPY3A4 alleles in Uygur and suggest that the enzymatic activities of CPY3A4 may differ among the diverse ethnic populations of China.
School of Life Sciences, Northwest University Xi'an, Shaanxi 710069, China ; National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, Shaanxi China.
Tianbo
T
Jin
School of Life Sciences, Northwest University Xi'an, Shaanxi 710069, China ; National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, Shaanxi China.
Hua
H
Yang
School of Life Sciences, Northwest University Xi'an, Shaanxi 710069, China ; National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, Shaanxi China.
Jiayi
J
Zhang
College of Life Sciences and Technology, Xinjiang University Urumqi 830046, China.
Zulfiya
Z
Yunus
School of Life Sciences, Northwest University Xi'an, Shaanxi 710069, China ; National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, Shaanxi China.
Qiang
Q
Sun
National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, Shaanxi China ; Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine Xi'an 710061, China.
Tingting
T
Geng
School of Life Sciences, Northwest University Xi'an, Shaanxi 710069, China ; National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, Shaanxi China.
Chao
C
Chen
Department of Radiotherapy Two, The People's Hospital of Xinjiang Uygur Autonomous Region Urumqi 830001, China.
Jie
J
Yang
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D044466:Asian People / Q000235:genetics*; D001665:Binding Sites; D002681:China; D019295:Computational Biology; D051544:Cytochrome P-450 CYP3A / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D030541:Databases, Genetic; D005091:Exons; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011487:Protein Conformation; D013329:Structure-Activity Relationship; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D014157:Transcription Factors; D051544:Cytochrome P-450 CYP3A; C510163:CYP3A4 protein, human
CPY3A4; Uygur; ethnic difference; genetic polymorphism; haplotype