title: Comprehensive analysis of UGT1A1 genetic polymorphisms in Chinese Tibetan and Han populations.
abstract: The study of polymorphism of the UGT1A1 gene has not been reported in the Chinese Tibetan population, and there are no comparisons of genetic polymorphism in the gene between Chinese Han and Tibetan populations. In this study, we directly sequenced the functional regions of the UGT1A1 gene in 200 unrelated healthy Chinese volunteers, detecting 20 variations (including five novel ones). The distributions of allele and genotype frequencies differ between the two groups. UGT1A1*6 is the major reduced functional variant in the populations, and the *27 allele was detected only in the Han group. Differences in the frequencies of the UGT1A1*6/*63 genotype between the Tibetan and Han populations were statistically significant (P = 0.009). Our genetic data might provide fundamental information for the advance of personalized medicine and will facilitate genotype-phenotype studies in larger populations.
authors.affiliation: National Engineering Research Center for Miniaturized Detection System, College of Life Sciences, Northwest University, 386# Taibai North Road 229, Xi'an, 710069, Shaanxi, China.
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Zhang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Meng
authors.forename: Yuewen
authors.initials: Y
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Yan
authors.forename: Jin
authors.initials: J
authors.lastname: Yang
mesh_terms: D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods; D005828:Genetics, Population / Q000379:methods*; D015894:Genome, Human; D060005:Genotyping Techniques; D014453:Glucuronosyltransferase / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D011110:Polymorphism, Genetic; D044382:Population Groups / Q000235:genetics*; D018609:Tibet; D055815:Young Adult; D000099148:UGT1A1 Enzyme
chemical_list: D020121:5' Untranslated Regions; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme