Genetic link with cholelithiasis among pediatric SCA Tunisian patients: Examples of UGT1A1, SLCO1A2 and SLCO1B1

International audienceAims and background: Hyperbilirubinemia is often observed in chronic hemolysis and results in the formation of pigment cholelithiasis that could be increased by the presence of defected enzymes involved in the bilirubin metabolism. Indeed, this is the first report that interested in the study of polymorphisms in genes encoded for enzymes involved in the bilirubin metabolism: rs 4149056 of SLCO1B1 and rs4149000 of SLCO1A2 in combination with rs8175347 and rs887829 of UGT1A1 in order to find a correlation between the polymorphisms studied and the presence of gallstones in a population of sickle cell anemia (SCA) pediatric Tunisians. Material and methods: Our study involved 102 unrelated Tunisian subjects. All SCA patients are children (less than 16 years old) and were characterized by hyperbilirubinemia and 52 of them have cholelithiasis. The polymorphisms of the candidate genes were analyzed for all subjects by PCR/sequencing. Genotype and allele frequencies between cases and controls were compared using Pearson's chi-square test with a significance threshold of P < 0.05 (compare 2, version 1.02). Results: The novelty of this report is that children carrying the combined genotype of the rs studied: (TA7TA7)/TT/TC/GA have a higher risk to develop gallstones (P = 0.0027, RR = 18.27 (20.0061-915.28)). Conclusion: Altogether our data provide the implication of UGT1A1 and SLCO1A2 in sickle cell anemia-related cholelithiasis

Association of Stromal Cell-Derived Factor-1-3 &apos; A Polymorphism to Higher Mobilization of Hematopoietic Stem Cells CD34+in Tunisian Population

We explored the influence of polymorphisms in genes encoding the chemokine stromal cellderived factor-1 (SDF-1)/CXCL12 in a cohort of Tunisian patients with malignant hematologic diseases multiple myeloma [MM], non-Hodgkin's lymphoma [NHL], Hodgkin's disease, and acute myeloid leukemia [AML], who underwent stem cell mobilization for autologous transplantation versus a group of healthy donors for allogeneic transplantation. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLp) analysis was used for rapid identification of genotypes. Significant associations for SDF1-3\ue2\u80\ub2A polymorphism were observed exclusively in patients with MM and NHL. While there was a lack of all association of SDF-1 polymorphism with AML patients. However, considering that the ability of mobilization varies among subjects, we have observed that the SDF1-3\ue2\u80\ub2A allele was associated with good mobilization capacity. Interestingly, the association was mainly observed among healthy allogeneic transplant donors where the analysis was not biased by background disease or chemotherapy (P = .010; odds ratio = 2.603; confidence interval [95%] = 1.2395.466)