Mutation screening of the CARD15 gene in sarcoidosis
Mutation screening of the CARD15 gene in sarcoidosis
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DOI：
10.1111/j.1399-0039.2008.01043.x
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发表时间：
2008-06-01
期刊：
影响因子：
--
通讯作者：
Shirakawa, T.
中科院分区：
文献类型：
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作者：
Akahoshi, M.;Ishihara, M.;Shirakawa, T.
CARD15首先被鉴定为克罗恩病的易感基因。最近，CARD15 突变被证明与儿科肉芽肿性炎症性疾病、Blau 综合征和早发性结节病 (EOS) 相关。本研究的目的是评估 CARD15 变异是否也在 EOS 以外的普通结节病患者中发挥作用。我们招募了 135 名患有葡萄膜炎的日本结节病患者以及 95 名健康个体，并通过 CARD15 外显子 4 的直接测序进行突变分析。结节病患者的直接 DNA 测序显示 8 个 CARD15 变异，包括 5 个新突变（13402C > T、13543C > T、13775C > A、13937G > A 和 14079C > T）。与健康个体相比，CARD15突变在日本结节病患者中并不常见。根据结果，我们根据 CARD15 突变检查了结节病患者的临床表现。具有这些突变的结节病患者在病程或疾病严重程度方面没有特定的临床特征。我们的结果表明，一般来说，CARD15 突变可能不会增加结节病的风险。
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.