Variantes genéticas del TNF-α y PTPN22 y su relación con tiroiditis de Hashimoto en pacientes con urticaria crónica espontánea del Caribe Colombiano.

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Title: Variantes genéticas del TNF-α y PTPN22 y su relación con tiroiditis de Hashimoto en pacientes con urticaria crónica espontánea del Caribe Colombiano.
Alternate Title: Genetic variants of TNF-α and PTPN22 and their association with Hashimoto’s thyroiditis in patients with chronic spontaneous urticaria from the Colombian Caribbean.
Authors: Arroyo Movilla, Carlos Octavio1, Domínguez-Vargas, Alex1,2, Fang, Luis1, Moreno Woo, Ana1, Garavito De Egea, Gloria1,2, Egea Bermejo, Eduardo1 eegea@uninorte.edu.co
Source: Revista Alergia de Mexico. Apr-Jun2026, Vol. 73 Issue 2, p111-119. 9p.
Abstract (English): OBJECTIVE: To evaluate the association of TNF-α promoter polymorphisms (rs361525, rs1800629) and the PTPN22 rs2476601 variant with the coexistence of CSU and HT in an admixed Caribbean Colombian population. METHODS: A retrospective case-control study was conducted in 86 patients with confirmed CSU (45 with CSU-alone and 41 with CSU+HT). Singlenucleotide polymorphism (SNP) genotyping was performed using TaqMan® assays. Hardy-Weinberg equilibrium (HWE), genotype, and allele frequencies were analyzed using chi-square tests and logistic regression models. RESULTS: The PTPN22 G allele showed a protective association in the CSU+HT group (OR: 0.02, 95% CI: 0.00–0.49; p = 0.015). While TNF-α SNPs conformed to HWE, PTPN22 deviated in the CSU+HT group due to the complete absence of AG heterozygotes. No significant associations were found between TNF-α polymorphisms and HT, though the TNF-α rs361525 G allele exhibited a near-significant trend (p = 0.061). The GG genotype was predominant across all evaluated SNPs. CONCLUSIONS: In this admixed Caribbean Colombian study, we observed a hypothesis-generating association between the PTPN22 rs2476601 G allele and lower odds of concomitant HT in CSU patients. Larger, adequately powered studies incorporating rigorous ancestry adjustment are required to confirm this finding. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): OBJETIVO: Evaluar la asociación de los polimorfismos del promotor del TNF-α (rs361525, rs1800629) y la variante PTPN22 rs2476601 con la coexistencia de urticaria crónica espontánea (UCE) y tiroiditis de Hashimoto (TH) en una población mixta caribeña colombiana. MÉTODOS: Estudio retrospectivo de casos y controles, llevado a cabo en 86 pacientes con UCE confirmada (45 con UCE sola y 41 con UCE+TH). Se realizó la genotipificación de polimorfismos de un solo nucleótido (SNP) mediante ensayos TaqMan®. El equilibrio de Hardy-Weinberg (EHW), los genotipos y las frecuencias alélicas se analizaron mediante pruebas de chi-cuadrado y modelos de regresión logística. RESULTADOS: El alelo G de PTPN22 mostró una asociación protectora en el grupo UCE+TH (OR: 0,02; IC del 95%: 0,00–0,49; p = 0,015). Si bien los SNP de TNF-α se ajustaron al equilibrio de Hardy-Weinberg (EHW), el PTPN22 presentó desviaciones en el grupo CSU+HT debido a la ausencia total de heterocigotos AG. No se encontró asociación significativa entre los polimorfismos de TNF-α y la HT, aunque el alelo G del TNF-α rs361525 mostró una tendencia casi significativa (p = 0.061). El genotipo GG fue predominante en todos los SNP evaluados. CONCLUSIONES: En este estudio con población mixta caribeña colombiana se encontró una asociación que genera hipótesis entre el alelo G del PTPN22 rs2476601 y una menor probabilidad de HT concomitante en pacientes con CSU. Se requieren estudios más amplios y con suficiente potencia estadística, que incorporen un ajuste riguroso de la ascendencia, para confirmar este hallazgo. [ABSTRACT FROM AUTHOR]
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Database: MedicLatina
Description
Abstract:OBJECTIVE: To evaluate the association of TNF-α promoter polymorphisms (rs361525, rs1800629) and the PTPN22 rs2476601 variant with the coexistence of CSU and HT in an admixed Caribbean Colombian population. METHODS: A retrospective case-control study was conducted in 86 patients with confirmed CSU (45 with CSU-alone and 41 with CSU+HT). Singlenucleotide polymorphism (SNP) genotyping was performed using TaqMan® assays. Hardy-Weinberg equilibrium (HWE), genotype, and allele frequencies were analyzed using chi-square tests and logistic regression models. RESULTS: The PTPN22 G allele showed a protective association in the CSU+HT group (OR: 0.02, 95% CI: 0.00–0.49; p = 0.015). While TNF-α SNPs conformed to HWE, PTPN22 deviated in the CSU+HT group due to the complete absence of AG heterozygotes. No significant associations were found between TNF-α polymorphisms and HT, though the TNF-α rs361525 G allele exhibited a near-significant trend (p = 0.061). The GG genotype was predominant across all evaluated SNPs. CONCLUSIONS: In this admixed Caribbean Colombian study, we observed a hypothesis-generating association between the PTPN22 rs2476601 G allele and lower odds of concomitant HT in CSU patients. Larger, adequately powered studies incorporating rigorous ancestry adjustment are required to confirm this finding. [ABSTRACT FROM AUTHOR]
ISSN:00025151
DOI:10.29262/ram.v73i2.1585