Gene Variants Identified in Mexican Patients with Alopecia Areata

Overview

Journal Curr Issues Mol Biol

Publisher MDPI

Specialty Molecular Biology

Date 2023 May 15

PMID 37185718

Authors

Andres Ortiz-Ramirez

Maria Cristina Hernandez-Jimenez

Iliana Berenice Guardiola-Avila

Erick De Jesus De Luna-Santillana

Amanda Alejandra Oliva-Hernandez

Maria Lourdes Altamirano-Garcia

Karina Janett Juarez-Rendon

Affiliations

Soon will be listed here.

Abstract

Alopecia Areata (AA) is a multifactorial, dermatological disease characterized by non-scarring hair loss. Alterations in candidate genes, such as (Hairless), could represent a risk factor for its development. The aim of this study was to search for and analyze variants in exons 3, 15 and 17 of the gene in Mexican patients with AA. A total of 30 samples from both AA patients and healthy donors were analyzed in this study. Exons were amplified and sequenced using the Sanger method. Descriptive statistics and χ2 tests were used in the analysis of clinical-demographic characteristics and the comparison of allelic/genotypical frequencies between groups, respectively. The effect on protein function for the non-synonymous variants was determined with three bioinformatics servers. Three gene variants were identified in the gene of the evaluated patients. The benign polymorphism c.1010G > A p.(Gly337Asp) (rs12675375) had been previously reported, whereas the variants c.750G > A p.(Gln250Gln) and c.3215T > A (Val1072AGlu) have not been described in other world populations. Both non-synonymous variants proved to be significant ( ≤ 0.05). The variant c.3215T > A p.(Val1072Glu) is of particular interest due to its deleterious effect on the structure and function of the protein; therefore, it could be considered a risk factor for the development of AA.

Citing Articles

The Incidence of Alopecia Areata in a COVID-19-Vaccinated Population: A Single-Center Review.

Chen J, Cano-Besquet S, Ghantarchyan H, Neeki M Cureus. 2024; 15(12):e50133.

PMID: 38186412 PMC: 10771325. DOI: 10.7759/cureus.50133.

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