Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Clin Exp Rheumatol. 2011 Jul-Aug;29(4 Suppl 67):S20-3. Epub 2011 Sep 27.
Behçet's disease (BD) may be triggered by infectious agents in genetically susceptible persons. Human β-defensin 2 is an inducible antimicrobial peptide, the level of which can be influenced by copy number (CN) of the DEFB4. We investigated the relationship between copy number variation (CNV) of DEFB4 and BD.
One hundred and ninety-seven patients with BD and 197 healthy controls were enrolled. After measuring CN of DEFB4 with a paralogue ratio test, the CNV was compared between patients and controls. CNV was also analysed in comparison with the clinical manifestations of BD.
The CN of DEFB4 was unimodally distributed among the study subjects with mean CN of 4.57 and standard deviation of 1.28. BD samples had numerically lower CN than controls, but the difference was not statistically significant (4.49 ± 1.21 vs. 4.65 ± 1.36, p=0.245). Regarding the relationship between CN of DEFB4 and clinical manifestations, there was no difference of CNV depending on the clinical manifestations.
We found no significant difference in CNV of DEFB4 between patients with BD and controls. Our results suggest that CNV of DEFB4 may not contribute to the pathogenesis of BD.
贝切特病（BD）可能由遗传易感人群中的感染因子引发。人β防御素 2 是一种诱导型抗菌肽，其水平可受 DEFB4 拷贝数（CN）的影响。我们研究了 DEFB4 的拷贝数变异（CNV）与 BD 之间的关系。
纳入 197 例 BD 患者和 197 名健康对照者。用等位基因比率试验测量 DEFB4 的 CN 后，比较患者和对照组之间的 CNV。还分析了 CNV 与 BD 的临床表现之间的关系。
研究对象的 DEFB4 CN 呈单峰分布，平均 CN 为 4.57，标准差为 1.28。BD 样本的 CN 数值低于对照组，但差异无统计学意义（4.49±1.21 对 4.65±1.36，p=0.245）。关于 DEFB4 CN 与临床表现之间的关系，CNV 无差异取决于临床表现。
我们未发现 BD 患者和对照组之间 DEFB4 的 CNV 有显著差异。我们的结果表明，DEFB4 的 CNV 可能与 BD 的发病机制无关。
