BibTex format
@article{Camino-Mera:2024:10.1111/cea.14564,
author = {Camino-Mera, A and Pardo-Seco, J and Bello, X and Argiz, L and Boyle, RJ and Custovic, A and Herberg, J and Kaforou, M and Arasi, S and Fiocchi, A and Pecora, V and Barni, S and Mori, F and Bracamonte, T and Echeverria, L and O'Valle-Aisa, V and Hernandez-Martinez, NL and Carballeira, I and Garcia, E and Garcia-Magan, C and Moure-Gonzalez, JD and Gonzalez-Delgado, P and Garriga-Baraut, T and Infante, S and Zambrano-Ibarra, G and Tomas-Perez, M and Machinena, A and Pascal, M and Prieto, A and Vazquez-Cortes, S and Fernandez-Rivas, M and Vila, L and Alsina, L and Torres, MJ and Mangone, G and Quirce, S and Martinon-Torres, F and Vazquez-Ortiz, M and Gomez-Carballa, A and Salas, A},
doi = {10.1111/cea.14564},
journal = {Clinical and Experimental Allergy},
pages = {919--929},
title = {Whole exome sequencing identifies epithelial and immune dysfunction-related biomarkers in food protein-induced enterocolitis syndrome},
url = {http://dx.doi.org/10.1111/cea.14564},
volume = {54},
year = {2024}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - BackgroundFood protein-induced enterocolitis syndrome (FPIES) is a food allergy primarily affecting infants, often leading to vomiting and shock. Due to its poorly understood pathophysiology and lack of specific biomarkers, diagnosis is frequently delayed. Understanding FPIES genetics can shed light on disease susceptibility and pathophysiology—key to developing diagnostic, prognostic, preventive and therapeutic strategies. Using a well-characterised cohort of patients we explored the potential genome-wide susceptibility factors underlying FPIES.MethodsBlood samples from 41 patients with oral food challenge-proven FPIES were collected for a comprehensive whole exome sequencing association study.ResultsNotable genetic variants, including rs872786 (RBM8A), rs2241880 (ATG16L1) and rs2289477 (ATG16L1), were identified as significant findings in FPIES. A weighted SKAT model identified six other associated genes including DGKZ and SIRPA. DGKZ induces TGF-β signalling, crucial for epithelial barrier integrity and IgA production; RBM8A is associated with thrombocytopenia absent radius syndrome, frequently associated with cow's milk allergy; SIRPA is associated with increased neutrophils/monocytes in inflamed tissues as often observed in FPIES; ATG16L1 is associated with inflammatory bowel disease. Coexpression correlation analysis revealed a functional correlation between RBM8A and filaggrin gene (FLG) in stomach and intestine tissue, with filaggrin being a known key pathogenic and risk factor for IgE-mediated food allergy. A transcriptome-wide association study suggested genetic variability in patients impacted gene expression of RBM8A (stomach and pancreas) and ATG16L1 (transverse colon).ConclusionsThis study represents the first case–control exome association study of FPIES patients and marks a crucial step towards unravelling genetic susceptibility factors underpinning the syndrome. Our findings highlight potential factors and pathways contributing to F
AU - Camino-Mera,A
AU - Pardo-Seco,J
AU - Bello,X
AU - Argiz,L
AU - Boyle,RJ
AU - Custovic,A
AU - Herberg,J
AU - Kaforou,M
AU - Arasi,S
AU - Fiocchi,A
AU - Pecora,V
AU - Barni,S
AU - Mori,F
AU - Bracamonte,T
AU - Echeverria,L
AU - O'Valle-Aisa,V
AU - Hernandez-Martinez,NL
AU - Carballeira,I
AU - Garcia,E
AU - Garcia-Magan,C
AU - Moure-Gonzalez,JD
AU - Gonzalez-Delgado,P
AU - Garriga-Baraut,T
AU - Infante,S
AU - Zambrano-Ibarra,G
AU - Tomas-Perez,M
AU - Machinena,A
AU - Pascal,M
AU - Prieto,A
AU - Vazquez-Cortes,S
AU - Fernandez-Rivas,M
AU - Vila,L
AU - Alsina,L
AU - Torres,MJ
AU - Mangone,G
AU - Quirce,S
AU - Martinon-Torres,F
AU - Vazquez-Ortiz,M
AU - Gomez-Carballa,A
AU - Salas,A
DO - 10.1111/cea.14564
EP - 929
PY - 2024///
SN - 0954-7894
SP - 919
TI - Whole exome sequencing identifies epithelial and immune dysfunction-related biomarkers in food protein-induced enterocolitis syndrome
T2 - Clinical and Experimental Allergy
UR - http://dx.doi.org/10.1111/cea.14564
VL - 54
ER -