DEFA1 基因拷贝数变异与白塞病肠道受累的相关性。
Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.
机构信息
Department of Internal Medicine, Kangbuk Samsung Hospital, Seoul, Korea.
出版信息
J Korean Med Sci. 2012 Jan;27(1):107-9. doi: 10.3346/jkms.2012.27.1.107. Epub 2011 Dec 19.
Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding α-defensin-1 in samples from Korean individuals with Behcet's disease (BD) compared to healthy controls (HC). We recruited 55 BD patients and 35 HC. A duplex Taqman® real-time PCR assay was used to assess CN. Most samples (31.1%) had a CN of 5 with a mean CN of 5.4 ± 0.2. There was no significant difference in the CN of the DEFA1 gene between BD patients and HC. A high DEFA1 gene CN was significantly associated with intestinal involvement in BD patients. Variable DEFA1 gene CNs were observed in both BD patients and HC and a high DEFA1 gene CN may be associated with susceptibility to intestinal involvement in BD.
拷贝数变异与各种自身免疫性疾病有关。我们研究了 DEFA1 基因（编码 α-防御素-1）的拷贝数（CN）在韩国白塞病（BD）患者与健康对照（HC）之间的差异。我们招募了 55 名 BD 患者和 35 名 HC。采用 duplex Taqman®实时 PCR 检测方法评估 CN。大多数样本（31.1%）的 CN 为 5，平均 CN 为 5.4±0.2。BD 患者与 HC 之间 DEFA1 基因的 CN 无显著差异。BD 患者中高 DEFA1 基因 CN 与肠道受累显著相关。BD 患者和 HC 中均观察到 DEFA1 基因 CN 存在变异性，高 DEFA1 基因 CN 可能与 BD 肠道受累的易感性相关。
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