Article
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Journal of medical genetics - 1 Jul 2021
Frank Daniel N, Giese Arnaud P J, Hafren Lena, Bootpetch Tori C, Yarza Talitha Karisse L, Steritz Matthew J, Pedro Melquiadesa, Labra Patrick John, Daly Kathleen A, Tantoco Ma Leah C, Szeremeta Wasyl, Reyes-Quintos Maria Rina T, Ahankoob Niaz, Llanes Erasmo Gonzalo D V, Pine Harold S, Yousaf Sairah, Ir Diana, Einarsdottir Elisabet, de la Cruz Rhodieleen Anne R, Lee Nanette R, Nonato Rachelle Marie A, Robertson Charles E, Ong Kimberly Mae C, Magno Jose Pedrito M, Chiong Alessandra Nadine E, Espiritu-Chiong Ma Carmina, San Agustin Maria Luz, Cruz Teresa Luisa G, Abes Generoso T, Bamshad Michael J, Cutiongco-de la Paz Eva Maria, Kere Juha, Nickerson Deborah A, Mohlke Karen L, Riazuddin Saima, Chan Abner, Mattila Petri S, Leal Suzanne M, Ryan Allen F, Ahmed Zubair M, Chonmaitree Tasnee, Sale Michele M, Chiong Charlotte M, Santos-Cortez Regie Lyn P
Abstract excerpt
BACKGROUND: Otitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility. METHODS: We performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from...
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