UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) α-thalassemia on cholelithogenesis in sickle cell anemia
UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) α-thalassemia on cholelithogenesis in sickle cell anemia
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DOI：
10.1002/ajh.20574
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发表时间：
2006-05-01
影响因子：
12.8
通讯作者：
Romana, Marc
中科院分区：
文献类型：
--
作者：
Chaar, Vicky;Keclard, Lysiane;Romana, Marc
镰状细胞性贫血中红细胞破坏增强导致慢性高胆红素血症。只有一部分患者会发展为胆石症。UGT 1A 1启动子多态性与非结合胆红素水平和胆石症风险增加相关。在这里，我们研究了α-地中海贫血的作用，另一种调节溶血的遗传因子，在保护胆结石。我们发现，虽然α-地中海贫血与溶血和未结合胆红素水平的适度降低有关，但UGT 1A 1多态性超过了其对镰状细胞贫血患者胆硫生成的影响。
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.