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    Multi-omic studies on missense PLG variants in families with otitis media.

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    Author
    Bootpetch, Tori C
    Hafrén, Lena
    Elling, Christina L
    Baschal, Erin E
    Manichaikul, Ani W
    Pine, Harold S
    Szeremeta, Wasyl
    Scholes, Melissa A
    Cass, Stephen P
    Larson, Eric D
    Chan, Kenny H
    Ishaq, Rafaqat
    Prager, Jeremy D
    Shaikh, Rehan S
    Gubbels, Samuel P
    Yousaf, Ayesha
    Wine, Todd M
    Bamshad, Michael J
    Yoon, Patricia J
    Jenkins, Herman A
    Nickerson, Deborah A
    Streubel, Sven-Olrik
    Friedman, Norman R
    Frank, Daniel N
    Einarsdottir, Elisabet
    Kere, Juha
    Riazuddin, Saima
    Daly, Kathleen A
    Leal, Suzanne M
    Ryan, Allen F
    Mattila, Petri S
    Ahmed, Zubair M
    Sale, Michele M
    Chonmaitree, Tasnee
    Santos-Cortez, Regie Lyn P
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    Date
    2020-09-14
    Journal
    Scientific Reports
    Publisher
    Springer Nature
    Type
    Article
    
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    Show full item record
    See at
    https://doi.org/10.1038/s41598-020-70498-w
    Abstract
    Otitis media (OM), a very common disease in young children, can result in hearing loss. In order to potentially replicate previously reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva and middle ear samples, 16S rRNA sequencing, molecular modeling, and statistical analyses including transmission disequilibrium tests (TDT) were performed in a multi-ethnic cohort of 718 families and simplex cases with OM. We identified four rare PLG variants c.112A > G (p.Lys38Glu), c.782G > A (p.Arg261His), c.1481C > T (p.Ala494Val) and c.2045 T > A (p.Ile682Asn), and one common variant c.1414G > A (p.Asp472Asn). However TDT analyses for these PLG variants did not demonstrate association with OM in 314 families. Additionally PLG expression is very low or absent in normal or diseased middle ear in mouse and human, and salivary expression and microbial α-diversity were non-significant in c.1414G > A (p.Asp472Asn) carriers. Based on molecular modeling, the novel rare variants particularly c.782G > A (p.Arg261His) and c.2045 T > A (p.Ile682Asn) were predicted to affect protein structure. Exploration of other potential disease mechanisms will help elucidate how PLG contributes to OM susceptibility in humans. Our results underline the importance of following up findings from genome-wide association through replication studies, preferably using multi-omic datasets.
    Keyword
    PLG
    Genome-Wide Association Study
    Otitis Media--genetics
    Identifier to cite or link to this item
    http://hdl.handle.net/10713/13774
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41598-020-70498-w
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