title: The association between functional HLA-G 14bp insertion/deletion and +3142 C>G polymorphisms and susceptibility to multiple sclerosis.
abstract: We aimed to investigate two main polymorphisms in the 3' untranslated region (3'UTR) of the HLA-G gene [14bp insertion/deletion (INS/DEL) and +3142 C>G] and to assess their impact on the soluble HLA-G (sHLA-G) production in patients with multiple sclerosis (MS). This study included 60 patients with relasping-remitting (RR) MS and 112 healthy donors (HD). Mutations were identified by PCR and PCR-RFLP, and serum sHLA-G quantification was performed by ELISA. For the 14bp INS/DEL polymorphism, variants frequencies were similar in patients and controls, whereas a significant increased frequency of the +3142 G allele was found in MS patients compared to HD (63.4% vs 52.3%, p=0.04; OR=1.58, 95%CI=1.003-2.48). In addition, an association was found between MS susceptibility and the haplotypes regrouping both studied polymorphisms. Indeed, the 14bp DEL/+3142 G haplotype frequency was significantly increased in MS patients compared to HD (20.8% vs 12.5%, p=0.04, OR=1.84). On the other hand, no associations were detected between both polymorphisms and clinical parameters, except the lower age of disease onset (ADO) in patients with the +3142 C/C genotype. Moreover, our study doesn't show any significant variation of sHLA-G serum levels between patients and controls. Our findings showed that the +3142 C>G, but not the 14bp INS/DEL, polymorphism may constitute a genetic susceptibility factor to MS in the Tunisian population. However, no association was found between the two polymorphisms and sHLA-G serum levels.
authors: Laboratory of Transmissible Diseases and Biological Active Substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Tunisia. Electronic address: benfredj_nadia@yahoo.fr.
authors: Nadia
authors: N
authors: Ben Fredj
authors: Research Unit 03/UR/07 "Autoimmunity and Allergy", Faculty of Pharmacy, Monastir, Tunisia.
authors: Kaouthar
authors: K
authors: Sakly
authors: Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Italy.
authors: Daria
authors: D
authors: Bortolotti
authors: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors: Mouna
authors: M
authors: Aissi
authors: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors: Mahbouba
authors: M
authors: Frih-Ayed
authors: Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Italy.
authors: Antonella
authors: A
authors: Rotola
authors: Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Italy.
authors: Elisabetta
authors: E
authors: Caselli
authors: Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Italy.
authors: Franscesca
authors: F
authors: Cura
authors: Research Unit 03/UR/07 "Autoimmunity and Allergy", Faculty of Pharmacy, Monastir, Tunisia.
authors: Nabil
authors: N
authors: Sakly
authors: Laboratory of Transmissible Diseases and Biological Active Substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Tunisia.
authors: Mahjoub
authors: M
authors: Aouni
authors: Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Italy.
authors: Dario
authors: D
authors: Di Luca
authors: Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Italy.
authors: Roberta
authors: R
authors: Rizzo
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D059951:HLA-G Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D059951:HLA-G Antigens
keywords: Genetic polymorphism; HLA-G antigens; Haplotypes; Multiple sclerosis; Tunisia