Purpose: To calculate linkage disequilibrium (LD) between every two-variant alleles and haplotypes of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene. \n\nMethods: For 200 healthy adults, pairwise D’ and r2 values were plotted between every two-variant alleles for all the polymorphisms observed. \n\nResults: Five single nucleotide polymorphisms (SNPs) were observed. Weak LD was seen between –3279G and –53(TA)7, between –53(TA)7 and 686A and between 211A and –3279G (D’ = 0.95 and r2 = 0.26, 0.13 and 0.11, respectively). Subjects possessing 211GA did not carry –3279GG and those possessing 211AA did not carry variant c.–53(TA)6>(TA)7 nor variant c.–3279T>G. There were 16 haplotypes found. Haplotypes [686CC//–53(TA)6/(TA)6//–3279TT//1091CC//211GG] (wild type) and [686CC//–53(TA)6/(TA)6//–3279TG//1091CC//211GG] were the predominate haplotypes, accounting for 23% and 20.5%, respectively. The serum bilirubin level was significantly different between the 15 subjects possessed number of SNPs ≧3 and the 46 subjects possessing wild type in the UGT1A1 gene [mean (SD): 18.13 (3.02) μmol/L versus 13.65 (2.66) μmol/L, P<0.001].\n\nConclusions: Our results show that, for the five polymorphisms of the UGT1A1 gene, weak LD exists between some two-alleles, while expulsion phenomenon is present between other two-alleles. LD status of UGT1A1 certainly affects serum bilirubin value even among healthy subjects.\n\nKey words: expulsion phenomenon, haplotypes, linkage disequilibrium, serum bilirubin level, UDP-glucuronosyltransferase 1A1

Login to Download PDF

Please login with your Paper ID and password to access the full PDF.

🔑 Login to Download