Faculty of Medicine, Department of Dermatology and Andrology, Benha University, Benha, Egypt.
Faculty of Medicine, Department of Clinical and Chemical Pathology, Benha University, Benha, Egypt.
Dermatol Ther. 2021 May;34(3):e14921. doi: 10.1111/dth.14921. Epub 2021 Mar 7.
Human beta defensin-1(hBD-1); an antimicrobial peptide, has immune regulatory effects which may be involved in autoimmunity. The aims were to evaluate the association between defensin beta 1 (DEFB1) (-44 C/G) and (-20 G/A) gene polymorphisms with the risk of vitiligo development, the extent of the disease and the response to NB-UVB treatment in a sample of Egyptian population. 178 active nonsegmental vitiligo patients and 182 control subjects were included in this prospective case control study. Vitiligo extent was evaluated using vitiligo area scoring index (VASI). Gene polymorphisms in all participants were studied by RFLP PCR technique. Patients were treated by three narrowband UVB (NB-UVB) treatment sessions per week. After 12 weeks, the patients were reevaluated clinically to assess the extent of the disease using VASI scoring again and to evaluate the type of repigmentation, if any. AA genotype of DEFB1 (-20G/A) has a protective role against vitiligo development, while (DEFB1 -44 C/G) GG genotype and G allele increase the risk of vitiligo development about two folds. Patients carrying polymorphism in DEFB1 (-20G/A) only showed the lowest VASI scores (14.23 ± 2.77) and the highest percentage of improvement (66.12 ± 18.01%), while patients carrying polymorphism in DEFB1(-44 C/G) only showed the highest baseline VASI scores (38.87 ± 6.7) and the lowest therapeutic response (23.79 ± 19.42%) among all patients groups. Different DEFB1 gene polymorphisms may modify the risk of vitiligo development, the disease extent and the response to NB-UVB phototherapy.
人β防御素-1（hBD-1）；一种抗菌肽，具有免疫调节作用，可能与自身免疫有关。目的是评估防御素β 1（DEFB1）（-44 C/G）和（-20 G/A）基因多态性与埃及人群发生白癜风的风险、疾病程度以及对 NB-UVB 治疗反应的关系。在这项前瞻性病例对照研究中，纳入了 178 例活动性非节段性白癜风患者和 182 例对照者。使用白癜风面积评分指数（VASI）评估白癜风程度。所有参与者的基因多态性均采用限制性片段长度多态性聚合酶链反应（RFLP-PCR）技术进行研究。患者每周接受三次窄谱 UVB（NB-UVB）治疗。治疗 12 周后，再次对患者进行临床评估，使用 VASI 评分再次评估疾病程度，并评估有无复色类型。DEFB1（-20G/A）的 AA 基因型对白癜风发病有保护作用，而（DEFB1-44 C/G）GG 基因型和 G 等位基因使白癜风发病风险增加约两倍。仅携带 DEFB1（-20G/A）多态性的患者 VASI 评分最低（14.23±2.77），改善率最高（66.12±18.01%），而仅携带 DEFB1（-44 C/G）多态性的患者 VASI 评分最高（38.87±6.7），治疗反应最低（23.79±19.42%）。不同的 DEFB1 基因多态性可能会改变白癜风发病风险、疾病程度以及对 NB-UVB 光疗的反应。
