RGD Reference Report - NOD2/CARD15 gene mutations in patients with familial Mediterranean fever. - Rat Genome Database

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NOD2/CARD15 gene mutations in patients with familial Mediterranean fever.

Authors: Berkun, Yackov  Karban, Amir  Padeh, Shai  Pras, Elon  Shinar, Yael  Lidar, Merav  Livneh, Avi  Bujanover, Yoram 
Citation: Berkun Y, etal., Semin Arthritis Rheum. 2012 Aug;42(1):84-8. doi: 10.1016/j.semarthrit.2011.12.002. Epub 2012 Jan 12.
RGD ID: 13204709
Pubmed: PMID:22244368   (View Abstract at PubMed)
DOI: DOI:10.1016/j.semarthrit.2011.12.002   (Journal Full-text)


OBJECTIVE: Familial Mediterranean fever (FMF) and Crohn's disease are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15, respectively) encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing, and inflammation. Although mutations in the MEFV gene were shown to modify Crohn's disease, the role of NOD2/CARD15 gene mutations in the FMF disease phenotype was never studied before.
PATIENTS AND METHODS: The cohort consisted of 103 consecutive children with FMF, followed in a single referral center. NOD2/CARD15 genotypes were analyzed in all patients and 299 ethnically matched unaffected controls. Demographic data, clinical characteristics, and disease course of FMF patients with and without NOD2/CARD15 mutation were compared.
RESULTS: A single NOD2/CARD15 mutation was detected in 10 (9.7%) FMF patients and 26 (8.7%) controls. No homozygous or compound heterozygous subjects were discovered in the 2 groups. FMF patients carrying a NOD2/CARD15 mutation had a higher rate of erysipelas-like erythema and acute scrotum attacks, a trend for a higher rate of colchicine resistance and a more severe disease as compared with patients without mutations.
CONCLUSIONS: NOD2/CARD15 mutations are not associated with an increased susceptibility to develop FMF. Nevertheless, the presence of these mutations in FMF patients appears to be associated with a trend to a more severe disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
familial mediterranean fever severityIAGP 13204709DNA:mutations:cds:p.G908R more ...RGD 
familial mediterranean fever severityISONOD2 (Homo sapiens)13204709; 13204709DNA:mutations:cds:p.G908R more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Mus musculus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Homo sapiens)
NOD2  (nucleotide binding oligomerization domain containing 2)


Additional Information