Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15).
OBJECTIVE
Mutations in NOD2 are responsible for Blau syndrome, a systemic disease triad involving the uvea, joints, and skin. NOD2 mutations are also associated with Crohn disease. Both Blau syndrome and Crohn disease involve granulomatous inflammation and uveitis, as does sarcoidosis. We sought to determine if NOD2 mutations were present in patients with sarcoidosis, especially those with uveitis.


METHODS
NOD2 gene exons were sequenced from DNA obtained from sarcoidosis patients. The diagnoses of sarcoidosis and uveitis were verified from clinical records.


RESULTS
NOD2 polymorphisms were found in 26 patients with sarcoidosis (13 with uveitis). There was no significant difference in allele frequencies between patients with and without uveitis.


CONCLUSIONS
Despite the strikingly similar pathologies of Blau syndrome and sarcoidosis, no mutations were found to be associated with sarcoidosis in a group of patients, regardless of the presence of uveitis.
Martin
Tammy M
TM
Casey Eye Institute, Oregon Health & Science University, Portland, Oregon 97239, USA. martint@ohsu.edu
Doyle
Trudy M
TM
Smith
Justine R
JR
Dinulescu
Denis
D
Rust
Kristal
K
Rosenbaum
James T
JT
D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D011110:Polymorphism, Genetic; D017565:Sarcoidosis, Pulmonary / Q000150:complications / Q000235:genetics*; D014605:Uveitis / Q000150:complications / Q000235:genetics*
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein