title: UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia.
abstract: 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.
authors.affiliation: UMR S-458 INSERM/Université des Antilles et de la Guyane, CHU de Pointe-à-Pitre, Guadeloupe, French West Indies.
authors.forename: Vicky
authors.initials: V
authors.lastname: Chaar
authors.forename: Lysiane
authors.initials: L
authors.lastname: Kéclard
authors.forename: Maryse
authors.initials: M
authors.lastname: Etienne-Julan
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Diara
authors.forename: Jacques
authors.initials: J
authors.lastname: Elion
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: Marc
authors.initials: M
authors.lastname: Romana
mesh_terms: 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
chemical_list: D001663:Bilirubin; D005914:Globins; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme