{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T08:05:12Z","timestamp":1766390712319,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Secretar\u00eda de Investigaci\u00f3n y Posgrado of the Instituto Polit\u00e9cnico Nacional (IPN), Mexico"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Alopecia 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 \u03c72 tests were used in the analysis of clinical\u2013demographic 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 &gt; A p.(Gly337Asp) (rs12675375) had been previously reported, whereas the variants c.750G &gt; A p.(Gln250Gln) and c.3215T &gt; A (Val1072AGlu) have not been described in other world populations. Both non-synonymous variants proved to be significant (p \u2264 0.05). The variant c.3215T &gt; 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.<\/jats:p>","DOI":"10.3390\/cimb45040194","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T02:30:15Z","timestamp":1680575415000},"page":"2965-2971","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["HR Gene Variants Identified in Mexican Patients with Alopecia Areata"],"prefix":"10.3390","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6735-1134","authenticated-orcid":false,"given":"Andr\u00e9s","family":"Ortiz-Ram\u00edrez","sequence":"first","affiliation":[{"name":"Centro de Biotecnolog\u00eda Gen\u00f3mica, Instituto Polit\u00e9cnico Nacional, Blvd. del Maestro s\/n. Esq. El\u00edas Pi\u00f1a, Col. Narciso Mendoza, Reynosa 88710, Mexico"},{"name":"Unidad Acad\u00e9mica Multidisciplinaria Reynosa Aztl\u00e1n, Universidad Aut\u00f3noma de Tamaulipas, Calle 16 s\/n y Lago de Chapala, Col. Aztl\u00e1n, Reynosa 88740, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Cristina","family":"Hern\u00e1ndez-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Unidad Acad\u00e9mica Multidisciplinaria Reynosa Aztl\u00e1n, Universidad Aut\u00f3noma de Tamaulipas, Calle 16 s\/n y Lago de Chapala, Col. Aztl\u00e1n, Reynosa 88740, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iliana Berenice","family":"Guardiola-Avila","sequence":"additional","affiliation":[{"name":"Department of Immunology and Microbiology, School of Medicine, University of Texas Rio Grande Valley (UTRGV), 5300 L. St., McAllen, TX 78504, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1257-5832","authenticated-orcid":false,"given":"Erick de Jes\u00fas","family":"De Luna-Santillana","sequence":"additional","affiliation":[{"name":"Centro de Biotecnolog\u00eda Gen\u00f3mica, Instituto Polit\u00e9cnico Nacional, Blvd. del Maestro s\/n. Esq. El\u00edas Pi\u00f1a, Col. Narciso Mendoza, Reynosa 88710, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda Alejandra","family":"Oliva-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Centro de Biotecnolog\u00eda Gen\u00f3mica, Instituto Polit\u00e9cnico Nacional, Blvd. del Maestro s\/n. Esq. El\u00edas Pi\u00f1a, Col. Narciso Mendoza, Reynosa 88710, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Lourdes","family":"Altamirano-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Centro Dermatol\u00f3gico Brunnenhalt de Reynosa, Vicente Guerrero 805 altos, Zona Centro, Reynosa 88500, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0422-8187","authenticated-orcid":false,"given":"Karina Janett","family":"Ju\u00e1rez-Rend\u00f3n","sequence":"additional","affiliation":[{"name":"Centro de Biotecnolog\u00eda Gen\u00f3mica, Instituto Polit\u00e9cnico Nacional, Blvd. del Maestro s\/n. Esq. El\u00edas Pi\u00f1a, Col. Narciso Mendoza, Reynosa 88710, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10238-020-00673-w","article-title":"Alopecia areata: A review on diagnosis, immunological etiopathogenesis and treatment options","volume":"21","author":"Sterkens","year":"2021","journal-title":"Clin. Exp. 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