Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia.
A total of 115 male adults with unconjugated hyperbilirubinemia were divided into six subgroups according to their glucose-6-phosphate dehydrogenase (G6PD) status (normal and deficient) and UDP-glucuronosyl transferase 1 (UGT1) A1 genotypes (heterozygous variation, compound heterozygous variation and homozygous variation). The mean (SD) value of serum bilirubin in the subjects with G6PD deficiency and homozygous variation in UGT1A1 gene was 51.3 (17.8) micromol/l, which was significantly higher compared to that in the other five subgroups. Among the 115 study subjects, five patients had bilirubin values greater than 51.3 micromol/l. All five of these subjects had a homozygous variant UGT1A1 genotype and four of them were G6PD deficient. Our data suggest that pronounced hyperbilirubinemia in G6PD-deficient male adults is attributable to the coinheritance of homozygous variation in the UGT1A1 gene.
Huang
May-Jen
MJ
Departments of Laboratory Medicine, Family Medicine and Liver Unit, Cathay General Hospital, Taipei, Taiwan.
Yang
Yi-Chu
YC
Yang
Sien-Sing
SS
Lin
Min-Shung
MS
Chen
En-Sung
ES
Huang
Ching-Shan
CS
D000328:Adult; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia / Q000201:enzymology / Q000235:genetics*; D008297:Male
D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase