Title :

Gene: Evidencesof Implication in Crohn's Disease.

Author(s) :

Frade-Proud'hon-Clerc, Sara [Auteur]
Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS]
Smol, Thomas [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Frenois, Frederic [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Sand, Olivier [Auteur]
Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 [EGENODIA (GI3M)]
Vaillant, Emmanuel [Auteur]
Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 [EGENODIA (GI3M)]
Dhennin, Veronique [Auteur]
Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 [EGENODIA (GI3M)]
Génomique Intégrative et Modélisation des Maladies Métaboliques (EGID) - UMR 8199
Bonnefond, Amelie [Auteur]
Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 [EGENODIA (GI3M)]
Froguel, Philippe [Auteur]
Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 [EGENODIA (GI3M)]
Génomique Intégrative et Modélisation des Maladies Métaboliques (EGID) - UMR 8199
Fumery, Mathurin [Auteur]
CHU Amiens-Picardie
Guillon-Dellac, Nathalie [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Gower, Corinne [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Vasseur, Francis [Auteur]
Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS]
METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694

Journal title :

International journal of molecular sciences

Abbreviated title :

Int J Mol Sci

Volume number :

20

Pages :

835

Publication date :

2019-02-15

ISSN :

1422-0067

English keyword(s) :

NOD2 gene
Crohn''s disease
variation
WES
Mesh:Alleles
Mesh:Mutation
Mesh:Missense/genetics
Mesh:Mutation
Mesh:Male
Mesh:Immunity
Mesh:Innate/genetics*
Mesh:Humans
Mesh:Heterozygote
Mesh:Genotype
Mesh:Genetic Predisposition to Disease*
Mesh:Genetic Association Studies
Mesh:Female
Mesh:Crohn Disease/pathology
Mesh:Crohn Disease/immunology
Mesh:Crohn Disease/genetics*
Mesh:Child
Mesh:Adult
Mesh:Adolescent
Mesh:Polymorphism
Mesh:Single Nucleotide
Mesh:Protein Conformation
Mesh:Whole Exome Sequencing
Mesh:Peptidoglycan/immunology
Mesh:Nod2 Signaling Adaptor Protein/immunology
Mesh:Nod2 Signaling Adaptor Protein/genetics*
Mesh:Nod2 Signaling Adaptor Protein/chemistry

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

The gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn's Disease (CD), with an Odds Ratio ranging from 3⁻36. Families with three or more CD-affected ...
Show more >The gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn's Disease (CD), with an Odds Ratio ranging from 3⁻36. Families with three or more CD-affected members were related to a high frequency of gene variations, such as R702W, G908R, and 1007fs, and were reported in the EPIMAD Registry. However, some rare CD multiplex families were described without identification of common linked-to-disease variations. In order to identify new genetic variation(s) closely linked with CD, whole exome sequencing was performed on available subjects, comprising four patients in two generations affected with Crohn's disease without R702W and G908R variation and three unaffected related subjects. A rare and, not yet, reported missense variation of the gene, N1010K, was detected and co-segregated across affected patients. In silico evaluation and modelling highlighted evidence for an adverse effect of the N1010K variation with regard to CD. Moreover, cumulative characterization of N1010K and 1007fs as a compound heterozygous state in two, more severe CD family members strongly suggests that N1010K could well be a new risk factor involved in Crohn's disease genetic susceptibility.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Centrale Lille
Inserm
Institut Pasteur de Lille
Université de Lille

Collections :

• Génomique Intégrative et Modélisation des Maladies Métaboliques (EGID) - UMR 8199
• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
• METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694

Submission date :

2019-10-22T08:16:52Z
2020-05-04T07:58:29Z