Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis—A Gene Set Enrichment Analysis

Ehlers Danlos syndrome (EDS) is a heritable disorder of the connective tissue usually inherited as an autosomal dominant trait. We observe an enrichment of EDS cases in a gastroparesis clinical study. METHODS: We explored the frequency of EDS cases in 2 consecutive gastroparesis clinical studies. To...

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Detalles Bibliográficos
Autores principales: Smieszek, Sandra P., Carlin, Jesse L., Fisher, Michaela A., Madonick, Darby S., Kupersmith, Caleigh Q., Moszczynski, Paula D., Xiao, Changfu, Polymeropoulos, Christos M., Birznieks, Gunther, Polymeropoulos, Mihael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043590/
https://www.ncbi.nlm.nih.gov/pubmed/36000988
http://dx.doi.org/10.14309/ctg.0000000000000521
Descripción
Sumario:Ehlers Danlos syndrome (EDS) is a heritable disorder of the connective tissue usually inherited as an autosomal dominant trait. We observe an enrichment of EDS cases in a gastroparesis clinical study. METHODS: We explored the frequency of EDS cases in 2 consecutive gastroparesis clinical studies. To explore the genetic surrogates of EDS, we have performed whole-genome sequencing analysis and we focused the analyses on the frequencies of consequential variants in core EDS genes. RESULTS: We report a significant enrichment of EDS cases in a set of patients with gastroparesis (14/686 vs 1/5,000 OR 104 (confidence interval 13.7–793.3) P value <0.0001). We report a significant enrichment of variants in EDS genes in patients with idiopathic gastroparesis. DISCUSSION: The enrichment may be suggestive of converging pathways at the heart of etiology or predisposing patients to EDS with gastroparesis.

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