IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications

Montoya-Delgado, Ingrid Berenice; Ochoa-García, Itzel Vianey; Escobedo-Salcedo, Zaira Lorena; Ortega-Cisneros, Margarita; Del Toro-Arreola, Alicia; Daneri-Navarro, Adrián; Valle, Yeminia; Nuñez-Nuñez, María Enriqueta; Bayardo-Gutierrez, Beatriz; Quintero-Ramos, Antonio

doi:10.3390/ijms27114711

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IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications

by

Ingrid Berenice Montoya-Delgado

^1,2

,

Itzel Vianey Ochoa-García

³,

Zaira Lorena Escobedo-Salcedo

³

,

Margarita Ortega-Cisneros

³,

Alicia Del Toro-Arreola

¹,

Adrián Daneri-Navarro

¹,

Yeminia Valle

⁴,

María Enriqueta Nuñez-Nuñez

⁵

,

Beatriz Bayardo-Gutierrez

⁵

and

Antonio Quintero-Ramos

^1,6,*

¹

Instituto de Investigación en Inmunología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico

²

Doctorado en Genética Humana, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico

³

Departamento de Inmunología Clínica y Alergia, Hospital de Especialidades, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara 44340, Jalisco, Mexico

⁴

Instituto de Neurociencias Traslacionales, Departamento de Neurología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico

⁵

Servicio de Alergia e Inmunología Clínica Pediátrica, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca”, Guadalajara 44340, Jalisco, Mexico

⁶

Unidad de Investigación Biomédica 02, Unidad Médica de Alta Especialidad, Hospital de Especialidades, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara 44340, Jalisco, Mexico

^*

Author to whom correspondence should be addressed.

Int. J. Mol. Sci. 2026, 27(11), 4711; https://doi.org/10.3390/ijms27114711 (registering DOI)

Submission received: 30 April 2026 / Revised: 17 May 2026 / Accepted: 20 May 2026 / Published: 23 May 2026

(This article belongs to the Special Issue New Insights into Allergic Asthma)

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Abstract

Severe asthma (SA) is a chronic respiratory disease characterized by clinical heterogeneity and poor therapeutic response. Variants in the IL4 gene, including rs2243250 and rs2243248, have been associated with asthma susceptibility and severity in different populations; however, their role in the Mexican population remains unclear. This study evaluated the association of IL4 promoter variants rs2243250 and rs2243248 with SA and related clinical characteristics in a Mexican population using genetic and in silico approaches. In total, 106 patients with SA and 180 healthy individuals were included. Genotyping was performed using allelic discrimination assays with TaqMan^® probes, and associations between genotypes and clinical variables were assessed. No significant differences in allele or genotype frequencies were observed between groups. However, the rs2243250 TT genotype was associated with nocturnal symptoms (OR = 3.03, 95% CI = 1.31–7.00, p = 0.009) and increased use of rescue medication (OR = 3.16, 95% CI = 1.41–7.07, p = 0.005). The rs2243248 TG/GG genotypes were associated with epithelial allergy (p < 0.05). In silico analysis suggested a regulatory role for both variants. These findings suggest that IL4 variants may not influence overall disease risk but could modulate clinical features of asthma severity.

Keywords: severe asthma; IL4 gene; genetic variants; in silico analysis

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MDPI and ACS Style

Montoya-Delgado, I.B.; Ochoa-García, I.V.; Escobedo-Salcedo, Z.L.; Ortega-Cisneros, M.; Del Toro-Arreola, A.; Daneri-Navarro, A.; Valle, Y.; Nuñez-Nuñez, M.E.; Bayardo-Gutierrez, B.; Quintero-Ramos, A. IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications. Int. J. Mol. Sci. 2026, 27, 4711. https://doi.org/10.3390/ijms27114711

AMA Style

Montoya-Delgado IB, Ochoa-García IV, Escobedo-Salcedo ZL, Ortega-Cisneros M, Del Toro-Arreola A, Daneri-Navarro A, Valle Y, Nuñez-Nuñez ME, Bayardo-Gutierrez B, Quintero-Ramos A. IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications. International Journal of Molecular Sciences. 2026; 27(11):4711. https://doi.org/10.3390/ijms27114711

Chicago/Turabian Style

Montoya-Delgado, Ingrid Berenice, Itzel Vianey Ochoa-García, Zaira Lorena Escobedo-Salcedo, Margarita Ortega-Cisneros, Alicia Del Toro-Arreola, Adrián Daneri-Navarro, Yeminia Valle, María Enriqueta Nuñez-Nuñez, Beatriz Bayardo-Gutierrez, and Antonio Quintero-Ramos. 2026. "IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications" International Journal of Molecular Sciences 27, no. 11: 4711. https://doi.org/10.3390/ijms27114711

APA Style

Montoya-Delgado, I. B., Ochoa-García, I. V., Escobedo-Salcedo, Z. L., Ortega-Cisneros, M., Del Toro-Arreola, A., Daneri-Navarro, A., Valle, Y., Nuñez-Nuñez, M. E., Bayardo-Gutierrez, B., & Quintero-Ramos, A. (2026). IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications. International Journal of Molecular Sciences, 27(11), 4711. https://doi.org/10.3390/ijms27114711

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IL4 Gene Variants rs2243250 and rs2243248 and Their Association with Clinical Phenotypes of Severe Asthma in the Mexican Population: In Silico Functional Analysis and Regulatory Implications

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