title: Early complication in sickle cell anemia children due to A(TA)nTAA polymorphism at the promoter of UGT1A1 gene.
abstract: OBJECTIVE
  To determine the implication of the polymorphism, namely, A(TA)nTAA of UGT1A1 in lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients.
  
  
  METHODS
  Our study was performed in 2010 and it involved 76 subjects chosen as control group characterized with normal hemoglobin status and presence of cholelithiasis and 102 SCA pediatric patients among whom 52 have cholelithiasis. We analyzed the polymorphism A(TA)nTAA at the UGT1A1 promoter and the relationships between the various A(TA)nTAA genotypes and alleles and bilirubin levels and occurrence of cholelithiasis.
  
  
  CONCLUSIONS
  The repartition of genotypes found according to serum bilirubin level shows a significant association between genotypes carrying variant (TA)7 and hyperbilirubinemia (P < 0.05). We demonstrated the association of two genotypes with gallstones formation among SCA children patients: (TA)7/(TA)7 and (TA)7/(TA)8 with P = 8.1 × 10⁻⁸ and P = 0.01, respectively. (TA)7 and (TA)8 allele variants act as a risk factor for early gallstones formation in SCA patients with P = 5.8 × 10⁻⁹ and P = 0.01, respectively. As for the control group only the genotype (TA)7/(TA)7 presented a risk factor for gallstones formation.
  
  
  CONCLUSIONS
  The novelty of this report is that it is the first time that a similar study was made on the Tunisian children sickle cell population and that the results show a clear association of (TA)7 variant in early gallstones formation in Tunisian SCA children. Interestingly our findings highlighted the association of (TA)8 variant as well, which was not found in previous studies.
authors.affiliation: Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia.
authors.forename: Leila
authors.initials: L
authors.lastname: Chaouch
authors.forename: Emna
authors.initials: E
authors.lastname: Talbi
authors.forename: Imen
authors.initials: I
authors.lastname: Moumni
authors.forename: Arij
authors.initials: A
authors.lastname: Ben Chaabene
authors.forename: Miniar
authors.initials: M
authors.lastname: Kalai
authors.forename: Dorra
authors.initials: D
authors.lastname: Chaouachi
authors.forename: Fethi
authors.initials: F
authors.lastname: Mallouli
authors.forename: Abderraouf
authors.initials: A
authors.lastname: Ghanem
authors.forename: Salem
authors.initials: S
authors.lastname: Abbes
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000235:genetics*; D001663:Bilirubin / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002769:Cholelithiasis / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme