Eosinophilic esophagitis: From pathophysiology to treatment

Table 2 Genetic factors involved in eosinophilic esophagitis

Genes	Encoded protein	Mechanism of action	Ref.
Mendelian syndromes
FBN1 (Marfan syndrome)	Fibrillin	Alteration of TGF-β pathway	[19]
COL (Elher-Danlos syndrome)	Collagen	Alteration of TGF-β pathway	[19]
TGFBR (Loeys-Dietz syndrome)	TGF-β-promoters	Alteration of TGF-β pathway	[21]
STAT3 (Iper-IgE syndrome)	Transcription activator 3	Aberrant cytokines production	[18]
DSG1 (SAM)	Desmoglein1	Loss of cell-cell adhesion	[23]
EoE-associated genetic variants
CCL26	Eotaxin-3	Eosinophilic chemo-attraction	[25]
FLG	Filaggrin	Epithelium-ECM interaction	[18]
TSLP (5q22)	TSLP	Basophils chemo-attraction	[28,29]
CAPN14	Calpain 14	Proteolytic effects	[28]

TGF: Transforming growth factor; ECM: Extracellular matrix; SAM: Severe atopic dermatitis, multiple allergies and metabolic syndrome.