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Marc Romana - One of the best experts on this subject based on the ideXlab platform.

  • association of ugt1a1 polymorphism with prevalence and age at onset of Cholelithiasis in sickle cell anemia
    Haematologica, 2005
    Co-Authors: Vicky Chaar, L Keclard, Jean Pierre Diara, Claudine Leturdu, Jacques Elion, Rajagopal Krishnamoorthy, John Clayton, Marc Romana
    Abstract:

    BACKGROUND AND OBJECTIVES. High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with Cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to Cholelithiasis in SCA was associated with the promoter polymorphism of the 5?-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene encoding a key enzyme in bilirubin catabolism. DESIGN AND METHODS. We determined the frequencies of UGT1A1 promoter alleles in 171 SCA children and 153 SCA adults regularly followed for a number of years at the Guadeloupe sickle cell center. These patients had undergone liver/biliary tree ultrasound scans every year. We analyzed the relationships between the various UGT1A1 promoter alleles and hemoglobin levels, steady-state total and unconjugated bilirubin concentrations and the frequency of Cholelithiasis. RESULTS. In both children and adults, (TA)6 was less frequent and (TA)7 more frequent in patients with Cholelithiasis than in those without this condition. Total and unconjugated bilirubin levels and the frequency of Cholelithiasis were significantly higher in patients with (TA)7/(TA)7 and (TA)7/(TA)8 genotypes than in those with other genotypes. Those homozygous for (TA)6 or carrying at least one (TA)5 allele had the lowest total and unconjugated bilirubin levels and were least likely to have Cholelithiasis. Patients with (TA)6/(TA)7 and (TA)6/(TA)8 genotypes presented intermediate values. Kaplan-Meier analysis of Cholelithiasis-free survival in children demonstrated an early age-at-onset for Cholelithiasis in patients with (TA)7/(TA)7 and (TA)7/(TA)8 genotypes. INTERPRETATIONS AND CONCLUSIONS. This study shows that the UGT1A1 gene promoter polymorphism is a major genetic risk factor modifying the frequency and age-at-onset of Cholelithiasis in SCA patients.

Jéssica M. Oliveira - One of the best experts on this subject based on the ideXlab platform.

  • Influence of UGT1A1 promoter polymorphism, α-thalassemia and β^s haplotype in bilirubin levels and Cholelithiasis in a large sickle cell anemia cohort
    Annals of Hematology, 2021
    Co-Authors: Jéssica V. G. F. Batista, Gabriela S. Arcanjo, Thais H. C. Batista, Marcondes J. Sobreira, Rodrigo M. Santana, Igor F. Domingos, Betânia L. Hatzlhofer, Diego A. Falcão, Diego A. Pereira-martins, Jéssica M. Oliveira
    Abstract:

    Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to Cholelithiasis development in a subset of patients. Evidence suggests that hyperbilirubinemia may be related to genetic variations, such as the UGT1A1 gene promoter polymorphism, which causes Gilbert syndrome (GS). Here, we aimed to determine the frequencies of UGT1A1 promoter alleles, alpha thalassemia, and β^S haplotypes and analyze their association with Cholelithiasis and bilirubin levels. The UGT1A1 alleles, −3.7 kb alpha thalassemia deletion and β^S haplotypes were determined using DNA sequencing and PCR-based assays in 913 patients with SCA. The mean of total and unconjugated bilirubin and the frequency of Cholelithiasis in GS patients were higher when compared to those without this condition, regardless of age ( P < 0.05). Cumulative analysis demonstrated an early age-at-onset for Cholelithiasis in GS genotypes ( P < 0.05). Low fetal hemoglobin (HbF) levels and normal alpha thalassemia genotype were related to Cholelithiasis development ( P > 0.05). However, not Cholelithiasis but total and unconjugated bilirubin levels were associated with β^S haplotype. These findings confirm in a large cohort that the UGT1A1 polymorphism influences Cholelithiasis and hyperbilirubinemia in SCA. HbF and alpha thalassemia also appear as modulators for Cholelithiasis risk.

Wen Chi Chen - One of the best experts on this subject based on the ideXlab platform.

  • risk factors associated with symptomatic Cholelithiasis in taiwan a population based study
    BMC Gastroenterology, 2011
    Co-Authors: Shihchang Hung, Kuanfu Liao, Shihwei Lai, Wen Chi Chen
    Abstract:

    Background: Cholelithiasis has become a major health problem in Taiwan. The predominant type of gallstone found in Asian populations differs from that in the West, indicating possible differences in the etiology and risk factors for Cholelithiasis. The aim of this study is to investigate the risk factors for Cholelithiasis using data representative of the general population. Methods: We performed a population-based, case-control study in which we analyzed medical data for 3725 patients newly diagnosed with Cholelithiasis and 11175 gender- and age-matched controls with no history of Cholelithiasis, using information obtained from the 2005 Registry for Beneficiaries of the National Health Insurance Research Database. Coexisting medical conditions were included in the analysis. Relative risks were estimated by adjusted odds ratio (OR) and 95% confidence interval (CI) using a multivariate logistic regression analysis. Results: After controlling for the other covariates, multivariate logistic regression analysis identified the following as risk factors for Cholelithiasis (in descending order of contribution): Among all patients - hepatitis C (OR = 2.78), cirrhosis (OR = 2.47), hepatitis B (OR = 2.00), obesity (OR = 1.89), and hyperlipidemia (OR = 1.54); Among women hepatitis C (OR = 3.05), cirrhosis (OR = 1.92), obesity (OR = 1.91), menopause (OR = 1.61), hepatitis B (OR = 1.54), and hyperlipidemia (OR = 1.49). Diabetes mellitus appeared to have a marked influence on the development of Cholelithiasis but was not identified as a significant independent risk factor for Cholelithiasis. Conclusions: The risk factors for Cholelithiasis were obesity, hyperlipidemia, hepatitis B infection, hepatitis C infection, and cirrhosis in both genders, and menopause in females. Despite differences in the predominate type of gallstone in Asian versus Western populations, we identified no unique risk factors among the population of Taiwan.

Peter F Belamarich - One of the best experts on this subject based on the ideXlab platform.

Vicky Chaar - One of the best experts on this subject based on the ideXlab platform.

  • association of ugt1a1 polymorphism with prevalence and age at onset of Cholelithiasis in sickle cell anemia
    Haematologica, 2005
    Co-Authors: Vicky Chaar, L Keclard, Jean Pierre Diara, Claudine Leturdu, Jacques Elion, Rajagopal Krishnamoorthy, John Clayton, Marc Romana
    Abstract:

    BACKGROUND AND OBJECTIVES. High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with Cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to Cholelithiasis in SCA was associated with the promoter polymorphism of the 5?-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene encoding a key enzyme in bilirubin catabolism. DESIGN AND METHODS. We determined the frequencies of UGT1A1 promoter alleles in 171 SCA children and 153 SCA adults regularly followed for a number of years at the Guadeloupe sickle cell center. These patients had undergone liver/biliary tree ultrasound scans every year. We analyzed the relationships between the various UGT1A1 promoter alleles and hemoglobin levels, steady-state total and unconjugated bilirubin concentrations and the frequency of Cholelithiasis. RESULTS. In both children and adults, (TA)6 was less frequent and (TA)7 more frequent in patients with Cholelithiasis than in those without this condition. Total and unconjugated bilirubin levels and the frequency of Cholelithiasis were significantly higher in patients with (TA)7/(TA)7 and (TA)7/(TA)8 genotypes than in those with other genotypes. Those homozygous for (TA)6 or carrying at least one (TA)5 allele had the lowest total and unconjugated bilirubin levels and were least likely to have Cholelithiasis. Patients with (TA)6/(TA)7 and (TA)6/(TA)8 genotypes presented intermediate values. Kaplan-Meier analysis of Cholelithiasis-free survival in children demonstrated an early age-at-onset for Cholelithiasis in patients with (TA)7/(TA)7 and (TA)7/(TA)8 genotypes. INTERPRETATIONS AND CONCLUSIONS. This study shows that the UGT1A1 gene promoter polymorphism is a major genetic risk factor modifying the frequency and age-at-onset of Cholelithiasis in SCA patients.