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Mutation screening of the CARD15 gene in sarcoidosis
M Akahoshi1, M Ishihara, K Namba
1The Institute of Physical and Chemical Research , Yokohama, Japan. akahoshi@intmed1.med.kyushu-u.ac.jp
Insights
Genetic analysis of CARD15 variants in Japanese sarcoidosis patients revealed no common mutations. CARD15 mutations were not found to be a significant risk factor for developing sarcoidosis or influencing its clinical features.
Area of Science:
- Genetics
- Immunology
- Inflammatory Diseases
Background:
- CARD15 (caspase recruitment domain-containing protein 15) is a known susceptibility gene for Crohn's disease.
- Recent studies linked CARD15 mutations to Blau syndrome and early-onset sarcoidosis (EOS).
Purpose of the Study:
- To investigate the role of CARD15 variants in ordinary sarcoidosis, distinct from EOS.
- To determine if CARD15 mutations are associated with sarcoidosis risk and clinical presentation in a Japanese population.
Main Methods:
- Direct DNA sequencing of CARD15 exon 4 was performed.
- 135 Japanese sarcoidosis patients (with uveitis) and 95 healthy controls were analyzed.
- Mutation analysis identified eight CARD15 variants, including five novel ones.
Main Results:
- CARD15 mutations were infrequent in Japanese sarcoidosis patients compared to healthy individuals.
- No specific clinical features related to disease course or severity were observed in sarcoidosis patients with CARD15 mutations.
- The identified novel mutations did not appear to be common in this cohort.
Conclusions:
- CARD15 mutations do not appear to be a significant risk factor for developing ordinary sarcoidosis in the Japanese population.
- The presence of CARD15 mutations did not correlate with specific clinical manifestations or disease severity in sarcoidosis patients.
- Further research may be needed to fully elucidate the genetic underpinnings of sarcoidosis.
Abstract:
CARD15 was first identified as a susceptibility gene for Crohn's disease. More recently, CARD15 mutations were shown to be associated with the pediatric granulomatous inflammatory diseases, Blau syndrome and early-onset sarcoidosis (EOS). The aim of the present study was to evaluate whether CARD15 variants also play a role in patients with ordinary sarcoidosis other than EOS. We enrolled 135 Japanese sarcoidosis patients with uveitis as well as 95 healthy individuals and performed mutation analysis by direct sequencing of CARD15 exon 4. Direct DNA sequencing in the sarcoidosis patients showed eight CARD15 variants, including five novel mutations (13402C>T, 13543C>T, 13775C>A, 13937G>A, and 14079C>T). Compared with healthy individuals, CARD15 mutations are not common in the Japanese patients with sarcoidosis. Based on the results, we examined the clinical manifestations in patients with sarcoidosis according to their CARD15 mutations. Sarcoidosis patients with these mutations have no specific clinical features with regard to course of the disease or disease severity. Our results indicate that in general, CARD15 mutations may not contribute to the risk of sarcoidosis.
