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Article

Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.

Journal of pediatric gastroenterology and nutrition - 1 Sept 2023

Harris R Alan, Bush Allyson H, Eagar Todd N, Qian Justin, Greenwood Michael P, Opekun Antone R, Baldassano Robert, Guthery Stephen L, Noe Joshua D, Otley Anthony, Rosh Joel R, Kugathasan Subra, Kellermayer Richard

Abstract excerpt

Non-caseating granulomas may indicate a more aggressive phenotype of Crohn disease (CD). Genetic associations of granulomatous CD (GCD) may help elucidate disease pathogenesis. Whole-exome sequencing was performed on peripheral blood-derived DNA from 17 pediatric patients with GCD and 19 with non-GCD (NGCD), and from an independent validation cohort of 44 GCD and 19 NGCD cases. PLINK (a tool set for whole-genome...

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Identifiers

PMID: 37347142
DOI: 10.1097/MPG.0000000000003873
PMCID: PMC10528115

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