Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata.

IF 1.9 4区 医学 Q3 DERMATOLOGY
Clinical, Cosmetic and Investigational Dermatology Pub Date : 2025-03-17 eCollection Date: 2025-01-01 DOI:10.2147/CCID.S504475
Ghadah Alhetheli, Mohammed Saleh Al-Dhubaibi, Saleh Salem Bahaj, Sharif Alhajlah, Ahmed Ibrahim AbdElneam
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引用次数: 0

Abstract

Introduction: Alopecia areata (AA), is a common autoimmune nonscarring alopecia. Vitamin D is involved in various biological processes such as immune regulation, cellular growth, and specialization, as well as the maintenance of the hair cycle. We aimed to explore the impact of different Tru9I variant genotypes on serum vitamin D levels and vitamin D receptor (VDR) gene expression.

Methods: Case-control study that included 72 individuals diagnosed with AA, along with age and sex matched healthy controls of 72 individuals. Blood samples were obtained to measure Vitamin D level and VDR gene expression focusing on Tru9I variant genotypes.

Results: Our findings indicate, for the first time, a possible association between the "U" allele and low vitamin D levels, along with altered activity of the VDR gene as observed in patients with AA.

Conclusion: This suggests a complex causal relationship between genetic factors and vitamin D in AA. Interestingly, "u" allele was found to be significantly more prevalent in the healthy control group than in the patients group, raising the possibility of its protective mechanism against the development of this disease in healthy individuals.

Tru9I变异作为斑秃维生素D缺乏的新遗传标记。
斑秃(AA)是一种常见的自身免疫性非瘢痕性脱发。维生素D参与多种生物过程,如免疫调节、细胞生长和特化,以及头发周期的维持。我们旨在探讨不同Tru9I变异基因型对血清维生素D水平和维生素D受体(VDR)基因表达的影响。方法:采用病例-对照研究,纳入72例AA患者,并与年龄、性别相匹配的健康对照者72例。采集血液样本,检测维生素D水平和以Tru9I变异基因型为重点的VDR基因表达。结果:我们的研究结果首次表明,在AA患者中观察到的“U”等位基因与低维生素D水平以及VDR基因活性改变之间可能存在关联。结论:AA的遗传因素与维生素D之间存在复杂的因果关系。有趣的是,“u”等位基因在健康对照组中比在患者组中明显更普遍,这增加了其在健康个体中防止该疾病发展的保护机制的可能性。
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来源期刊
CiteScore
2.80
自引率
4.30%
发文量
353
审稿时长
16 weeks
期刊介绍: Clinical, Cosmetic and Investigational Dermatology is an international, peer-reviewed, open access journal that focuses on the latest clinical and experimental research in all aspects of skin disease and cosmetic interventions. Normal and pathological processes in skin development and aging, their modification and treatment, as well as basic research into histology of dermal and dermal structures that provide clinical insights and potential treatment options are key topics for the journal. Patient satisfaction, preference, quality of life, compliance, persistence and their role in developing new management options to optimize outcomes for target conditions constitute major areas of interest. The journal is characterized by the rapid reporting of clinical studies, reviews and original research in skin research and skin care. All areas of dermatology will be covered; contributions will be welcomed from all clinicians and basic science researchers globally.
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