UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia.
Enhanced erythrocyte destruction in sickle cell anemia results in chronic hyperbilirubinemia. Only a subset of patients develop cholelithiasis. UGT1A1 promoter polymorphism is associated both with unconjugated bilirubin level and elevated risk for cholelithiasis in such subset. Here, we investigated the role of alpha-thalassemia, yet another genetic factor that modulates hemolysis, in conferring protection from cholelithiasis. We show that, although alpha-thalassemia is associated with modest reduction in hemolysis and unconjugated bilirubin level, UGT1A1 polymorphism outweighs its effect on cholethiogenesis in sickle cell anemia patients.
Chaar
Vicky
V
UMR S-458 INSERM/Université des Antilles et de la Guyane, CHU de Pointe-à-Pitre, Guadeloupe, French West Indies.
Kéclard
Lysiane
L
Etienne-Julan
Maryse
M
Diara
Jean Pierre
JP
Elion
Jacques
J
Krishnamoorthy
Rajagopal
R
Romana
Marc
M
D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000235:genetics*; D001663:Bilirubin / Q000097:blood; D002648:Child; D002769:Cholelithiasis / Q000097:blood / Q000209:etiology / Q000235:genetics*; D017353:Gene Deletion; D005914:Globins / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D017085:alpha-Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*; D000099148:UGT1A1 Enzyme
D001663:Bilirubin; D005914:Globins; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme