RT Journal Article
T1 Impact of STAT6 Variants on the Response to Proton Pump Inhibitors and Comorbidities in Patients with Eosinophilic Esophagitis
A1 Soria Chacartegui, Paula
A1 Navares Gómez, Marcos
A1 Molina Jiménez, Francisca
A1 Laserna Mendieta, Emilio J.
A1 Arias González, Laura
A1 Majano Rodríguez, Pedro Lorenzo
A1 Casabona, Sergio
A1 Lucendo, Alfredo J.
A1 Abad Santos, Francisco
A1 Santander, Cecilio
A1 Zubiaur, Pablo
AB Proton pump inhibitors (PPIs) are the first-line drug for eosinophilic esophagitis (EoE), although it is estimated that there is a lack of histological remission in 50% of patients. This research aimed to identify pharmacogenetic biomarkers predictive of PPI effectiveness and to study their association with disease features. Peak eosinophil count (PEC) and the endoscopic reference score (EREFS) were determined before and after an eight-week PPI course in 28 EoE patients. The impact of the signal transducer and activator of transcription 6 (STAT6), CYP2C19, CYP3A4, CYP3A5, and ABCB1 genetic variations on baseline PEC and EREFS, their reduction and histological response, and on EoE symptoms and comorbidities was analyzed. PEC reduction was higher in omeprazole-treated patients (92.5%) compared to other PPIs (57.9%, p = 0.003). STAT6 rs12368672 (g.18453G>C) G/G genotype showed higher baseline PEC values compared to G/C and C/C genotypes (83.2 vs. 52.9, p = 0.027). EREFS reduction in STAT6 rs12368672 G/G and G/C genotypes was higher than in the C/C genotype (36.7% vs. −75.0% p = 0.011). However, significance was lost after Bonferroni correction. Heartburn incidence was higher in STAT6 rs167769 (g.27148G>A) G/G patients compared to G/A (54.55% vs. 11.77%, p = 0.030). STAT6 rs12368672G>C and rs167769G>A variants might have a relevant impact on EoE status and PPI response. Further research is warranted to clarify the clinical relevance of these variants.
PB MDPI
SN 1661-6596
YR 2024
FD 2024-03-26
LK https://hdl.handle.net/20.500.14352/118902
UL https://hdl.handle.net/20.500.14352/118902
LA eng
NO Soria-Chacartegui, P., Navares-Gómez, M., Molina-Jiménez, F., Laserna-Mendieta, E. J., Arias-González, L., Majano, P., Casabona, S., Lucendo, A. J., Abad-Santos, F., Santander, C., & Zubiaur, P. (2024). Impact of STAT6 Variants on the Response to Proton Pump Inhibitors and Comorbidities in Patients with Eosinophilic Esophagitis. International Journal of Molecular Sciences, 25(7). https://doi.org/10.3390/IJMS25073685
NO P.S.-C. is financed by the FPI-UAM-2021 predoctoral fellowship. M.N.-G. is financed by the ICI20/00131 Grant, Acción Estratégica en Salud 2017–2020, ISCIII. P.Z. is financed by a “Contrato Margarita Salas de la convocatoria para la Recualificación del Sistema Universitario Español” (UAM). C.S. and P.M. are supported by grants PI17/0008 and ISCIII-Proteored 2019 of Instituto de Salud Carlos III (ISCIII, Spain) and co-funded by Fondo Europeo de Desarrollo Regional (FEDER). C.S. is also funded by Asociación Española de Gastroenterología (AEG) 2019 grant. E.J.L.-M. is in receipt of a Juan Rodes grant (JR19/00005) from the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Health—Social Services and Equality, which is partly funded by the European Social Fund (period 2014–2020).
NO Instituto de Salud Carlos III
NO Universidad Autónoma de Madrid
NO European Commission
NO Asociación Española de Gastroenterología
NO Ministerio de Sanidad, Servicios Sociales e Igualdad (España)
DS Docta Complutense
RD 4 abr 2025