Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15)

Tammy Martin, Trudy M. Doyle, Justine R. Smith, Denis Dinulescu, Kristal Rust, James (Jim) Rosenbaum

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

PURPOSE: 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.

Original languageEnglish (US)
Pages (from-to)933-935
Number of pages3
JournalAmerican Journal of Ophthalmology
Volume136
Issue number5
DOIs
StatePublished - Nov 2003

Fingerprint

Uveitis
Sarcoidosis
Mutation
Crohn Disease
Uvea
Gene Frequency
Exons
Joints
Pathology
Inflammation
Skin
DNA
Genes
Blau syndrome

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15). / Martin, Tammy; Doyle, Trudy M.; Smith, Justine R.; Dinulescu, Denis; Rust, Kristal; Rosenbaum, James (Jim).

In: American Journal of Ophthalmology, Vol. 136, No. 5, 11.2003, p. 933-935.

Research output: Contribution to journalArticle

Martin, Tammy ; Doyle, Trudy M. ; Smith, Justine R. ; Dinulescu, Denis ; Rust, Kristal ; Rosenbaum, James (Jim). / Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15). In: American Journal of Ophthalmology. 2003 ; Vol. 136, No. 5. pp. 933-935.
@article{39bc6fa7222340188623bfa2be8d9a2f,
title = "Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15)",
abstract = "PURPOSE: 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.",
author = "Tammy Martin and Doyle, {Trudy M.} and Smith, {Justine R.} and Denis Dinulescu and Kristal Rust and Rosenbaum, {James (Jim)}",
year = "2003",
month = "11",
doi = "10.1016/S0002-9394(03)00892-4",
language = "English (US)",
volume = "136",
pages = "933--935",
journal = "American Journal of Ophthalmology",
issn = "0002-9394",
publisher = "Elsevier USA",
number = "5",

}

TY - JOUR

T1 - Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15)

AU - Martin, Tammy

AU - Doyle, Trudy M.

AU - Smith, Justine R.

AU - Dinulescu, Denis

AU - Rust, Kristal

AU - Rosenbaum, James (Jim)

PY - 2003/11

Y1 - 2003/11

N2 - PURPOSE: 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.

AB - PURPOSE: 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.

UR - http://www.scopus.com/inward/record.url?scp=0142257968&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0142257968&partnerID=8YFLogxK

U2 - 10.1016/S0002-9394(03)00892-4

DO - 10.1016/S0002-9394(03)00892-4

M3 - Article

C2 - 14597055

AN - SCOPUS:0142257968

VL - 136

SP - 933

EP - 935

JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

SN - 0002-9394

IS - 5

ER -