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- W1995471567 abstract "Eosinophilic esophagitis (EoE) is a chronic antigen driven disease associated with tissue remodeling and increased TGFb1 expression. The genetic influences on disease severity and therapeutic response are currently unknown. A functional single nucleotide polymorphism (SNP), C-509T, in the TGFb1 gene promoter has been linked to asthma and renal disease severity. We hypothesized that this SNP may influence histologic and/or phenotypic findings in pediatric EoE. We performed single nucleotide polymorphism analysis for TGFb1 C-509T in pediatric EoE subjects. Histology scores were generated by a pathologist blinded to genotype and clinical course. TGFb1+ cells were quantitated using immunohistochemistry and image analysis. Subject response to topical corticosteroids was evaluated in the context of genotype. Of 129 EoE subjects, 41 (32%), 75 (58%), and 13 (10%) were genotype CC, CT, and TT, respectively. 63 subjects had adequate lamina propria (LP) for analysis. Subjects with genotype TT had significantly more TGFb+ cells (mean=2511cells/mm2, SEM =150) than genotypes CT (1532cells/mm2, SEM=64) or CC (mean=997cells/mm2, SEM=90) (p < .0001). TT subjects had higher numbers of LP eosinophils (20/ hpf versus CT-13/hpf and CC-12/hpf) while CC subjects had lower numbers of peak epithelial eosinophils (mean=57.9 per hpf) than CT (100.2/hpf) or TT (66.7/hpf) subjects (p<0.001). 49 subjects were treated with topical esophageal corticosteroids (TCS). While 94% of CC subjects responded to TCS, CT and TT subjects had more variable response rates of 73% and 57%, respectively (OR=4.6, p=0.08). The functional C-509T SNP in the TGFb1 gene may influence EoE histology and phenotype." @default.
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- W1995471567 date "2013-02-01" @default.
- W1995471567 modified "2023-09-23" @default.
- W1995471567 title "A Transforming Growth Factor Beta-1 Gene Single Nucleotide Polymorphism May Influence Phenotype in Pediatric Eosinophilic Esophagitis" @default.
- W1995471567 doi "https://doi.org/10.1016/j.jaci.2012.12.1139" @default.
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