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Chronic hyperbilirubinaemia, gallstone formation, and gall bladder disease are unusually common in people with haemoglobin E beta thalassaemia in Sri Lanka. To determine whether this has a genetic basis we compared the bilirubin levels and frequency of gallstones in patients with different alleles of the UGT*1 gene. There was a significantly higher bilirubin level in those with the 7/7 genotypes compared with 6/6 and 6/7 genotype (p=0.032 and 0.0015 respectively), who also appeared more prone to gallstone formation. These results suggest that the UGT*1 genotpe is of importance in the genesis of gallstones in this population of patients.

Type

Journal article

Journal

Lancet

Publication Date

16/06/2001

Volume

357

Pages

1945 - 1946

Keywords

Alleles, Bilirubin, Cholelithiasis, Gene Frequency, Genotype, Glucuronosyltransferase, Hemoglobin E, Humans, Jaundice, Monosaccharide Transport Proteins, Promoter Regions, Genetic, Sri Lanka, beta-Thalassemia