Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Clin Exp Rheumatol. 2009 Mar-Apr;27(2 Suppl 53):S13-7.
Behçet's disease (BD) is an autoimmune disease with an unknown etiology and mannose-binding lectin (MBL) is a pattern recognition receptor in the innate immune system, which is associated with some autoimmune diseases. We investigated MBL2 gene polymorphisms and serum MBL levels in BD patients and controls.
MBL2 gene polymorphisms in exon 1 (MBL2 54 Gly/Asp, (A/B)), promoter (MBL2 H/L (G-550C), MBL2 Y/X (G-221C)), and 5' UTR region (MBL2 P/Q (C+4T)) were investigated using polymerase chain reaction and restriction fragment length polymorphism in 119 BD patients and 252 healthy controls. Serum MBL levels were measured by enzyme linked immunosorbent assay in 49 BD patients and 102 sex-/genotype-matched controls.
No significant difference was found between BD patients and controls in terms of MBL2 polymorphisms and MBL serum levels. However, the presence of genital ulcer and neurologic involvement were found to be associated with MBL2 54 allele A (OR=2.415, OR=6.632, respectively). Eye involvement was found to be related to the presence of the MBL2 54 AA or AB genotypes (OR=12.46), MBL2-G-550C allele H (OR=1.829). High serum MBL level (> or =500 ng/ml) was associated with skin lesions (p=0.002).
The frequencies of the four MBL2 genetic polymorphisms examined were not different in BD patients and healthy controls. However, the presence of genital ulcer, eye involvement, and neuro-Behcet's disease were found to be associated with MBL2 polymorphisms that are associated with the production of high levels of MBL or functional MBL.
贝切特病（BD）是一种病因不明的自身免疫性疾病，甘露聚糖结合凝集素（MBL）是先天免疫系统中的一种模式识别受体，与一些自身免疫性疾病有关。我们研究了 BD 患者和对照者的 MBL2 基因多态性和血清 MBL 水平。
采用聚合酶链反应和限制性片段长度多态性分析，检测 119 例 BD 患者和 252 例健康对照者 MBL2 基因外显子 1（MBL2 54 Gly/Asp，（A/B））、启动子（MBL2 H/L（G-550C）、MBL2 Y/X（G-221C））和 5'UTR 区（MBL2 P/Q（C+4T））的多态性。采用酶联免疫吸附试验检测 49 例 BD 患者和 102 例性别/基因型匹配对照者的血清 MBL 水平。
BD 患者和对照组之间 MBL2 多态性和 MBL 血清水平无显著差异。然而，存在生殖器溃疡和神经系统受累与 MBL2 54 等位基因 A（OR=2.415，OR=6.632）有关。眼部受累与 MBL2 54 AA 或 AB 基因型（OR=12.46）、MBL2-G-550C 等位基因 H（OR=1.829）有关。高血清 MBL 水平（>或=500ng/ml）与皮肤病变有关（p=0.002）。
我们研究的 4 种 MBL2 基因多态性在 BD 患者和健康对照组中的频率无差异。然而，存在生殖器溃疡、眼部受累和神经贝切特病与 MBL2 多态性有关，这些多态性与 MBL 或功能性 MBL 的高产生有关。
