University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES11 Tunis, Tunisia; Rabta Hospital, Laboratory of Biochemistry, Jebbari 1007, Tunis, Tunisia.
University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES11 Tunis, Tunisia; Rabta Hospital, Service of Internal Medicine, Jebbari 1007, Tunis, Tunisia.
Eur J Intern Med. 2019 Jul;65:58-62. doi: 10.1016/j.ejim.2019.02.008. Epub 2019 Feb 26.
Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology. Beta-defensins are antimicrobial peptides involved in epithelial host defense. To explore whether beta-defensins might be involved in BD pathogenesis, we examined plasma human beta-defensin-1 (hBD-1) and DEFB1 -20G/A polymorphism in BD patients.
This case-control study included 106 BD patients fulfilling the criteria of the International Study Group for BD and 156 controls. The -20G/A genotypes were determined by PCR-RFLP analysis in all participants, and plasma hBD-1 was assessed by ELISA in 77 BD patients and 44 controls, only. Stepwise multiple regression models were applied to determine independent predictors for plasma hBD-1 in BD patients.
Distribution of -20G/A genotypes was different between BD patients and controls. Compared to GG genotype, "GA" genotype [OR (95% CI), 3.12 (1.56-6.16); p = .001] and "AA" genotype [2.57 (1.10-5.96); p = .027)] were associated with increased risk for BD. Plasma hBD-1 concentrations were significantly higher in BD patients than controls (9.81 ± 3.52 ng/mL vs. 5.30 ± 3.02 ng/mL; p < .001), and in BD patients with neurological involvement than those without (11.1 ± 4.12 ng/mL vs. 9.19 ± 3.10 ng/mL; p = .040). No variation was noted according to other clinical features, treatment received or -20G/A genotypes. In multivariate analysis, neurological involvement was the only predictor for plasma hBD-1 (β, 0.274; p = .029).
Findings suggest that hBD-1 and its encoding gene DEFB1 could modulate the risk for BD, especially for BD neurological involvement. Further work is needed for a better understanding of role of hBD-1 and its genetic variants in the pathogenesis of BD.
白塞病（BD）是一种病因不明的多系统炎症性疾病。β-防御素是参与上皮宿主防御的抗菌肽。为了探讨β-防御素是否与 BD 的发病机制有关，我们检测了 BD 患者的血浆人β-防御素-1（hBD-1）和 DEFB1-20G/A 多态性。
这项病例对照研究包括 106 名符合国际白塞病研究组标准的 BD 患者和 156 名对照。所有参与者均通过 PCR-RFLP 分析确定-20G/A 基因型，仅对 77 名 BD 患者和 44 名对照进行 ELISA 检测血浆 hBD-1。应用逐步多元回归模型确定 BD 患者血浆 hBD-1 的独立预测因子。
BD 患者和对照组-20G/A 基因型分布不同。与 GG 基因型相比，“GA”基因型[比值比（95%可信区间），3.12（1.56-6.16）；p=0.001]和“AA”基因型[2.57（1.10-5.96）；p=0.027]与 BD 的发病风险增加相关。BD 患者的血浆 hBD-1 浓度明显高于对照组（9.81±3.52ng/ml vs. 5.30±3.02ng/ml；p<0.001），且有神经系统受累的 BD 患者高于无神经系统受累的患者（11.1±4.12ng/ml vs. 9.19±3.10ng/ml；p=0.040）。根据其他临床特征、治疗方法或-20G/A 基因型，未观察到变化。多元分析显示，神经系统受累是血浆 hBD-1 的唯一预测因子（β，0.274；p=0.029）。
研究结果表明，hBD-1 及其编码基因 DEFB1 可能调节 BD 的发病风险，尤其是对 BD 神经系统受累的发病风险。需要进一步的研究来更好地了解 hBD-1 及其遗传变异在 BD 发病机制中的作用。
