Keywords
Urticaria espontánea crónica
TNF-α
PTPN22
Polimorfismos del promotor
Tiroiditis de Hashimoto
AleloA
Alelo
How to Cite
Abstract
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.
PALABRAS CLAVE: Caribe Colombiano; Urticaria espontánea crónica; TNF-α; PTPN22; Polimorfismos del promotor; Tiroiditis de Hashimoto; Alelo.
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