HR Gene Variants Identified in Mexican Patients with Alopecia Areata

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AudienciaPúblico en generales_ES
CoberturaMéxicoes_ES
Fecha de ingreso2026-09-15T00:30:21Z
Fecha de publicación2023-01-01
ResumenAlopecia Areata (AA) is a multifactorial, dermatological disease characterized by non-scarring hair loss. Alterations in candidate genes, such as HR (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 HR 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 HR 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 (p ≤ 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.es_ES
Doihttps://doi.org/10.3390/cimb45040194es_ES
URIhttps://riuat.uat.edu.mx/handle/123456789/2312
Idiomaeses_ES
EditorialMDPI AGes_ES
RelaciónCurrent Issues in Molecular Biologyes_ES
URL relacionadohttps://doi.org/10.3390/cimb45040194es_ES
DerechosAcceso abierto (Metadatos de producción científica)es_ES
Licenciahttp://purl.org/coar/access_right/c_abf2es_ES
FuenteCurrent Issues in Molecular Biology
TítuloHR Gene Variants Identified in Mexican Patients with Alopecia Areataes_ES
TipoArtículoes_ES
ArbitradoHa sido Arbitradoes_ES
AutorOrtiz-Ramírez, Andrés
AutorHernández-Jiménez, María Cristina
AutorGuardiola-Avila, Iliana Berenice
AutorLuna-Santillana, Erick de Jesús De
AutorOliva-Hernández, Amanda Alejandra
AutorAltamirano-García, María Lourdes
AutorJuárez-Rendón, Karina Janett
AutorOrtiz-Ramírez, Andréses_ES
AutorHernández-Jiménez, María Cristinaes_ES
AutorGuardiola-Avila, Iliana Berenicees_ES
AutorLuna-Santillana, Erick de Jesús Dees_ES
AutorOliva-Hernández, Amanda Alejandraes_ES
AutorAltamirano-García, María Lourdeses_ES
AutorJuárez-Rendón, Karina Janettes_ES
InstituciónUniversidad Autónoma de Tamaulipas
InstituciónUniversidad Autónoma de Tamaulipases_ES
Número4es_ES
Rango de páginas2965-2971es_ES
URL relacionadahttps://doi.org/10.3390/cimb45040194
Tipo de artículoIndexado
Tipo de artículoIndexadoes_ES
Volumen45es_ES

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