Huang May-Jen, Yang Yi-Chu, Yang Sien-Sing, Lin Min-Shung, Chen En-Sung, Huang Ching-Shan
Departments of Laboratory Medicine, Family Medicine and Liver Unit, Cathay General Hospital, Taipei, Taiwan.
Pharmacogenetics. 2002 Nov;12(8):663-6. doi: 10.1097/00008571-200211000-00012.
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.
共有115名患有非结合胆红素血症的成年男性，根据其葡萄糖-6-磷酸脱氢酶（G6PD）状态（正常和缺乏）以及尿苷二磷酸葡萄糖醛酸基转移酶1（UGT1）A1基因型（杂合变异、复合杂合变异和纯合变异）分为六个亚组。G6PD缺乏且UGT1A1基因纯合变异的受试者血清胆红素的平均（标准差）值为51.3（17.8）微摩尔/升，与其他五个亚组相比显著更高。在115名研究对象中，有5名患者的胆红素值大于51.3微摩尔/升。所有这5名受试者均具有UGT1A1基因纯合变异基因型，其中4名G6PD缺乏。我们的数据表明，G6PD缺乏的成年男性中明显的高胆红素血症归因于UGT1A1基因纯合变异的共同遗传。
