The effect of UGT1A1 promoter polymorphism in the development of hyperbilirubinemia and cholelithiasis in hemoglobinopathy patients
| Autor: | Mashael Al-Mutairi, Mays Hadi, Hassan Al-Jafer, Suad AlFadhli, Rasheeba Nizam |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Glucuronosyltransferase Genotype Anemia Bilirubin Science Population Anemia Sickle Cell Gastroenterology chemistry.chemical_compound Cholelithiasis Internal medicine medicine Humans Allele education Promoter Regions Genetic Alleles Hyperbilirubinemia education.field_of_study Multidisciplinary Polymorphism Genetic biology business.industry beta-Thalassemia Beta thalassemia medicine.disease Hemoglobinopathies Hemoglobinopathy chemistry biology.protein Medicine Female business Research Article |
| Zdroj: | PLoS ONE, Vol 8, Iss 10, p e77681 (2013) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | Present study was aimed to explore the effect of (TA)n UGT1A1 gene promoter polymorphism on bilirubin metabolism, bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in Sickle-Cell Anemia (SCA) and beta-Thalasemia major (bTH) in Kuwaiti subjects compared to other population. This polymorphism was analyzed and correlated to total bilirubin and cholelithiasis in 270 age, gender, ethnically matched subjects (92 bTH, 116 SCA and 62 Controls) using PCR, dHPLC, fragment analysis and direct sequencing. Four genotypes of UGT1A1 were detected in this study (TA6/6, TA6/7, TA6/8 and TA7/7). (TA)6/8 was found only in four individuals; hence it was not included in the analysis. There was a statistically significant association of genotypes with serum total bilirubin levels in both bTH and SCA groups (p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|