HR Gene Variants Identified in Mexican Patients With Alopecia Areata

April 2023 in “ Current Issues in Molecular Biology ”

Andrés Ortiz-Ramírez, María Cristina Hernández-Jiménez, Iliana Guardiola-Avila, Erick de Jesús de Luna-Santillana, Amanda Alejandra Oliva-Hernández, María Lourdes Altamirano-García, Karina Janett Juárez-Rendón

HR gene Alopecia Areata c.1010G > A p.(Gly337Asp) c.750G > A p.(Gln250Gln) c.3215T > A p.(Val1072Glu) AA

TLDR A specific gene variant may increase the risk of developing Alopecia Areata.

This study investigated variants in the HR gene in 30 Mexican patients with Alopecia Areata (AA) and healthy donors. Three variants were identified: the previously reported benign polymorphism c.1010G > A p.(Gly337Asp) and two novel variants, c.750G > A p.(Gln250Gln) and c.3215T > A p.(Val1072Glu). The latter two non-synonymous variants were significant, with c.3215T > A p.(Val1072Glu) being particularly noteworthy due to its deleterious impact on protein structure and function, suggesting it could be a risk factor for AA development.

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