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评估维生素 D 受体基因多态性(ApaI 和 TaqI)作为白癜风的风险因素和窄谱 UVB 光疗反应的预测因子。

Evaluation of vitamin D receptor gene polymorphisms (ApaI and TaqI) as risk factors of vitiligo and predictors of response to narrowband UVB phototherapy.

机构信息

Department of Dermatology, Andrology and STDs, Faculty of Medicine, Mansoura University, El-Gomhoria St., Mansoura, Egypt.

Department of Medical Microbiology and Immunology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

出版信息

Arch Dermatol Res. 2023 Apr;315(3):379-386. doi: 10.1007/s00403-022-02348-w. Epub 2022 Mar 23.

Abstract

Vitiligo is acquired depigmentation due to multiple factors. Vitamin D in skin, through its receptors (VDR), regulates cell growth, differentiation, immune response and exerts both stimulatory and protective effects on melanocytes. The gene sequence encoding VDR has polymorphic forms such as ApaI and TaqI that may affect vitamin D actions. Narrowband ultraviolet B (NB-UVB) phototherapy became the mainstay of vitiligo treatment because of its efficacy and little side effects. The current work aimed at evaluating the possible association between VDR gene polymorphisms (TaqI and ApaI) and susceptibility of vitiligo and if they could be predictors of response to NB-UVB phototherapy in Egyptian vitiligo patients. 100 vitiligo patients indicated for NB-UVB phototherapy and 100 healthy age and sex matched controls were included. All participants were subjected to history taking, general and dermatological examinations, and VDR ApaI and TaqI gene polymorphisms analysis by PCR-RFLP. The patients received NB-UVB 3times per week for 6 months then revaluated. There was significant increase in Aa genotype of ApaI polymorphism in patients associated with significant increase in vitiligo activity. 66% of patient showed variable degrees of response to NB-UVB. The responders significantly had AA genotype of ApaI polymorphism. TaqI polymorphism showed nonsignificant effects on vitiligo susceptibility and response to NB-UVB. A allele of ApaI was significant independent predictor of NB-UVB phototherapy responders. VDR gene polymorphism (ApaI) may share in vitiligo pathogenesis and response to NB-UVB. Knowing the genetic background of the patient helps individualization of treatment to get better results.

摘要

白癜风是一种由多种因素引起的获得性色素减退。皮肤中的维生素 D 通过其受体(VDR)调节细胞生长、分化、免疫反应,并对黑素细胞发挥刺激和保护作用。VDR 基因序列具有多态性,如 ApaI 和 TaqI 等,这些多态性可能影响维生素 D 的作用。窄谱中波紫外线(NB-UVB)光疗因其疗效好、副作用小而成为白癜风治疗的主要方法。目前的工作旨在评估 VDR 基因多态性(TaqI 和 ApaI)与白癜风易感性的可能关联,以及它们是否可以预测埃及白癜风患者对 NB-UVB 光疗的反应。纳入了 100 例需要 NB-UVB 光疗的白癜风患者和 100 例年龄和性别匹配的健康对照者。所有参与者均接受病史采集、一般和皮肤科检查,以及 VDR ApaI 和 TaqI 基因多态性分析。患者每周接受 3 次 NB-UVB 治疗,持续 6 个月,然后重新评估。ApaI 多态性的 Aa 基因型在患者中显著增加,与白癜风活动度显著增加相关。66%的患者对 NB-UVB 有不同程度的反应。 responders 显著具有 ApaI 多态性的 AA 基因型。TaqI 多态性对白癜风易感性和对 NB-UVB 的反应无显著影响。ApaI 的 A 等位基因是 NB-UVB 光疗反应者的显著独立预测因子。VDR 基因多态性(ApaI)可能与白癜风发病机制和对 NB-UVB 的反应有关。了解患者的遗传背景有助于实现个体化治疗,以获得更好的效果。

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