Article
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.
JCI insight - 19 Apr 2018
Sherrill Joseph D, Kc Kiran, Wang Xinjian, Wen Ting, Chamberlin Adam, Stucke Emily M, Collins Margaret H, Abonia J Pablo, Peng Yanyan, Wu Qiang, Putnam Philip E, Dexheimer Phillip J, Aronow Bruce J, Kottyan Leah C, Kaufman Kenneth M, Harley John B, Huang Taosheng, Rothenberg Marc E
Abstract excerpt
Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and...
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