Scott D Hirsch, Christina L Elling, Tori C Bootpetch, Melissa A Scholes, Lena Hafrén, Sven-Olrik Streubel, Harold S Pine, Todd M Wine, Wasyl Szeremeta, Jeremy D Prager, Elisabet Einarsdottir, Ayesha Yousaf, Erin E Baschal, Sakina Rehman, Michael J Bamshad, Deborah A Nickerson, Saima Riazuddin, Suzanne M Leal, Zubair M Ahmed, Patricia J Yoon, Juha Kere, Kenny H Chan, Petri S Mattila, Norman R Friedman, Tasnee Chonmaitree, Daniel N Frank, Allen F Ryan, Regie Lyn P Santos-Cortez
Otitis media (OM) is common in young children and can cause hearing loss and speech, language, and developmental delays. OM has high heritability; however, little is known about OM-related molecular and genetic processes. CDHR3 was previously identified as a locus for OM susceptibility, but to date, studies have focused on how the CDHR3 p.Cys529Tyr variant increases epithelial binding of rhinovirus-C and risk for lung or sinus pathology. In order to further delineate a role for CDHR3 in OM, we performed the following: exome sequencing using DNA samples from OM-affected individuals from 257 multi-ethnic families; Sanger sequencing, logistic regression and transmission disequilibrium tests for 407 US trios or probands with OM; 16S rRNA sequencing and analysis for middle ear and nasopharyngeal samples; and single-cell RNA sequencing and differential expression analyses for mouse middle ear...
November 2021: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"