Relation Between the Uridine Diphosphate Glucuronosyltransferase 1A1 Polymorphism and the Bilirubin Levels in Sickle Cell Disease 821-824
Dr. Renu Saxena,
Professor and Head
Department of Haematology,
I.R.C.H. Building (1st floor),
All India Institute of Medical Sciences,
Ansari Nagar, New Delhi â€“ 110 029,India.
Background: Genetic variations in the promoter of uridine diphosphate (UDP)â€“glucuronosyltransferase 1A1 (UGT1A1) may be associated with hyperbilirubinaemia and it appears to be a risk factor for gallstone formation.
Aims: Our aim was to detect the correlation between the UGT 1A1 (TA)n repeats and hyperbilirubinaemia and gall stone formation in Indian sickle cell patients.
Settings and Design:This was a cross-sectional study; which was carried in an autonomous tertiary care hospital.
Materials and Methods: The study subjects were 50 sickle cell anaemia and 70 sickle cell β-thalassaemia patients who were diagnosed by HPLC. The haemogram of the patients was measured by using an automated cell analyzer, while the serum bilrubin measurement was done by using a Beckman- CX-9 auto analyzer. The presence of gall stones was detected by ultra sound examination.
Statistical Analysis: ANOVA and the T-test were applied to compare the means of the groups. The allele frequencies were calculated according to the Hardy-Weinberg equilibrium.
Results: The allele, 7/7 TA of the UGT1A1 genotype was more frequent in the sickle cell patients and it was associated with hyperbilirubinaemia and gall stone formation.
Conclusions: The allele, 7/7 TA of the UGT1A1 polymorphism affects the bilirubin levels and the development of gallbladder stone in the Indian sickle cell patients.