Association of UGT1A1*28 promoter polymorphisms with the novel UGT1A7 promoter polymorphism
Genotyping of 200 patients referred for suspected Gilbert-Meulengracht's disease. Among these patients, 71 were homozygous for the UGT1A7*28 TATA box polymorphism of the UGT1A1 bilirubin transferase gene. Taqman allelic discrimination PCR analysis of all 200 patients demonstrated that in persons homozygous for the UGT1A1*28 TATA box polymorphism, 73% carried the homozygous UGT1A7 â57 G promoter polymorphism, and only 2 (3%) had the wild-type UGT1A7 promoter, indicating that among patients with homozygous Gilbert-Meulengracht's disease, 97% carry the reduced activity UGT1A7 promoter polymorphism. However, UGT1A7 â57 Tâ G is also present in persons who carry a UGT1A1*1 promoter.
| UGT1A1*28 (A(TA)7TAA) | UGT1A7 -57 G/T | ||
|---|---|---|---|
| UGT1A7 -57 G | UGT1A7 -57 T/G | UGT1A7 -57 T | |
| UGT1A1*28 (71) | 53 (75%) | 16 (22%) | 2 (3%) |
| UGT1A1*28/*1 (65) | 6 (9%) | 50 (77%) | 9 (14%) |
| UGT1A1*1 (64) | 5 (8%) | 12 (19%) | 47 (73%) |