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Tru9I变异体作为斑秃中维生素D缺乏的一种新型遗传标志物。

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

作者信息

Alhetheli Ghadah, Al-Dhubaibi Mohammed Saleh, Bahaj Saleh Salem, Alhajlah Sharif, AbdElneam Ahmed Ibrahim

机构信息

Department of Dermatology, College of Medicine, Qassim University, Buraydah, Saudi Arabia.

Departments of Dermatology, College of Medicine, Shaqra University, Dawadmi, Saudi Arabia.

出版信息

Clin Cosmet Investig Dermatol. 2025 Mar 17;18:593-600. doi: 10.2147/CCID.S504475. eCollection 2025.

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.

摘要

引言

斑秃(AA)是一种常见的非瘢痕性自身免疫性脱发。维生素D参与多种生物学过程,如免疫调节、细胞生长和分化,以及毛发周期的维持。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

病例对照研究,纳入72例诊断为斑秃的个体,以及72例年龄和性别匹配的健康对照。采集血样以测量维生素D水平和VDR基因表达,重点关注Tru9I变异基因型。

结果

我们的研究结果首次表明,在斑秃患者中观察到“U”等位基因与低维生素D水平之间可能存在关联,同时VDR基因活性发生改变。

结论

这表明在斑秃中遗传因素与维生素D之间存在复杂的因果关系。有趣的是,发现“u”等位基因在健康对照组中比在患者组中显著更常见,这增加了其在健康个体中对该疾病发展具有保护机制的可能性。

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