Rare A2ML1 variants confer susceptibility to otitis media.

doi:10.1038/ng.3347

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Article

Rare A2ML1 variants confer susceptibility to otitis media.

Nature genetics - 1 Aug 2015

Santos-Cortez Regie Lyn P, Chiong Charlotte M, Reyes-Quintos Ma Rina T, Tantoco Ma Leah C, Wang Xin, Acharya Anushree, Abbe Izoduwa, Giese Arnaud P, Smith Joshua D, Allen E Kaitlynn, Li Biao, Cutiongco-de la Paz Eva Maria, Garcia Marieflor Cristy, Llanes Erasmo Gonzalo D V, Labra Patrick John, Gloria-Cruz Teresa Luisa I, Chan Abner L, Wang Gao T, Daly Kathleen A, Shendure Jay, Bamshad Michael J, Nickerson Deborah A, Patel Janak A, Riazuddin Saima, Sale Michele M, Chonmaitree Tasnee, Ahmed Zubair M, Abes Generoso T, Leal Suzanne M

Abstract excerpt

A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1...

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PMID: 26121085
DOI: 10.1038/ng.3347
PMCID: PMC4528370

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