Titre :

Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients

Auteur(s) :

Choteau, Laura [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Vasseur, Francis [Auteur]
Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS]
Leprêtre, Frédéric [Auteur]
Plateforme de génomique fonctionnelle et structurelle [Lille]
Figeac, Martin [Auteur]
Plateforme de génomique fonctionnelle et structurelle [Lille]
Gower, Corinne [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Dubuquoy, Laurent [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Poulain, Daniel [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Colombel, Jean-Frederic [Auteur]
Icahn School of Medicine at Mount Sinai [New York] [MSSM]
Sendid, Boualem [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Jawhara, Samir [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]

Titre de la revue :

Scientific Reports

Nom court de la revue :

Sci Rep

Numéro :

6

Date de publication :

2016-07-12

Mot(s)-clé(s) :

Mesh:Crohn Disease/genetics*
Mesh:Nuchal Cord
Mesh:Male
Mesh:Mannose-Binding Lectin/genetics*
Mesh:Crohn Disease/blood
Mesh:Female
Mesh:Genotype
Mesh:Saccharomyces cerevisiae/immunology
Mesh:Mannose-Binding Lectin/blood
Mesh:Humans
Mesh:Polymorphism
Mesh:Single Nucleotide
Mesh:Phenotype
Mesh:Nod2 Signaling Adaptor Protein/genetics*
Mesh:Mannose-Binding Protein-Associated Serine Proteases/genetics*

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Mannose-binding lectin, together with mannose-associated serine proteases, activates the lectin pathway of the complement system and subsequent inflammatory mechanisms. An association between mannose-binding lectin deficiency ...
Lire la suite >Mannose-binding lectin, together with mannose-associated serine proteases, activates the lectin pathway of the complement system and subsequent inflammatory mechanisms. An association between mannose-binding lectin deficiency and anti-Saccharomyces cerevisiae antibody levels is observed in Crohn’s disease and this deficiency is frequently associated with a severe Crohn’s disease phenotype. In the present study, we assessed the relationship between serum concentrations of mannose-binding lectin, mannose-binding lectin functional activity, MBL2 and NOD2 polymorphisms, anti-S. cerevisiae antibody levels and clinical Crohn’s disease phenotype in 69 Crohn’s disease patients and 30 age- and sex-matched healthy controls. The results show that the MBL2 variant rs5030737 at codon 52 was associated with a low level of mannose-binding lectin and impaired mannose-binding lectin–mannose-associated serine protease (MBL-MASP) functional activity in Crohn’s disease patients. This MBL2 variant was also associated with a higher level of anti-S. cerevisiae antibodies. In addition, the NOD2 variant rs2066844, which is associated with susceptibility to Crohn’s disease, was significantly correlated with an impairment in MBL-MASP functional activity. These results provide evidence that Crohn’s disease patients have an impairment in MBL-MASP functional activity and that this defect is associated with MBL2 and NOD2 variants.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Inserm
Université de Lille
CHU Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
• METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694

Équipe(s) de recherche :

Inflammatory digestive disease : pathophysiology and therapeutic targets developement
Fungal associated invasive and inflammatory diseases
IBD and environnemental factors : epidemiology and functional analyses

Date de dépôt :

2019-03-01T14:25:42Z
2020-03-20T16:22:05Z
2021-06-08T11:54:57Z