Showing papers by "Kathleen Daly published in 2020"
Anschutz Medical Campus1, University of Helsinki2, University of Virginia3, University of Texas Medical Branch4, Boston Children's Hospital5, University of Maryland, Baltimore6, Bahauddin Zakariya University7, University of Washington8, Karolinska Institutet9, King's College London10, University of Minnesota11, Columbia University Medical Center12, University of California, San Diego13
TL;DR: The results underline the importance of following up findings from genome-wide association through replication studies, preferably using multi-omic datasets, and exploration of other potential disease mechanisms will help elucidate how PLG contributes to OM susceptibility in humans.
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.
3 citations
01 Apr 2020
TL;DR: The first time I received an express mail package from Australia, and it was from John, was more than 25 years ago, in January 1993, when I was working at the University of Michigan in Ann Arbor as discussed by the authors.
Abstract: I shall never forget the day. It was more than 25 years ago, in January 1993, when I was working at the University of Michigan in Ann Arbor. I received an express mail package from Australia, and it was from John. He had sent me a paper to read and comment upon.
3 citations