Rare A2ML1 variants confer susceptibility to otitis media

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

doi:10.1038/ng.3347

Rare A2ML1 variants confer susceptibility to otitis media

Regie Lyn P. Santos-Cortez
, Charlotte M. Chiong
, Ma Rina T. Reyes-Quintos
, Ma Leah C. Tantoco
, Xin Wang
, Anushree Acharya
, Izoduwa Abbe
, Arnaud P. Giese
, Joshua D. Smith
, E. Kaitlynn Allen
, Biao Li
, Eva Maria Cutiongco-De La Paz
, Marieflor Cristy Garcia
, Erasmo Gonzalo D.V. Llanes
, Patrick John Labra
, Teresa Luisa I. Gloria-Cruz
, Abner L. Chan
, Gao T. Wang
, Kathleen A. Daly
, Jay Shendure

Michael J. Bamshad, Deborah A. Nickerson, Janak A. Patel, Saima Riazuddin, Michele M. Sale, Tasnee Chonmaitree, Zubair M. Ahmed, Generoso T. Abes, Suzanne M. Leal

Pediatrics

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

Abstract

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 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.

Original language	English (US)
Pages (from-to)	917-920
Number of pages	4
Journal	Nature Genetics
Volume	47
Issue number	8
DOIs	https://doi.org/10.1038/ng.3347
State	Published - Aug 30 2015

ASJC Scopus subject areas

Genetics

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Santos-Cortez, R. L. P., Chiong, C. M., Reyes-Quintos, M. R. T., Tantoco, M. L. C., Wang, X., Acharya, A., Abbe, I., Giese, A. P., Smith, J. D., Allen, E. K., Li, B., Cutiongco-De La Paz, E. M., Garcia, M. C., Llanes, E. G. D. V., Labra, P. J., Gloria-Cruz, T. L. I., Chan, A. L., Wang, G. T., Daly, K. A., ... Leal, S. M. (2015). Rare A2ML1 variants confer susceptibility to otitis media. Nature Genetics, 47(8), 917-920. https://doi.org/10.1038/ng.3347

Santos-Cortez, RLP, Chiong, CM, Reyes-Quintos, MRT, Tantoco, MLC, Wang, X, Acharya, A, Abbe, I, Giese, AP, Smith, JD, Allen, EK, Li, B, Cutiongco-De La Paz, EM, Garcia, MC, Llanes, EGDV, Labra, PJ, Gloria-Cruz, TLI, Chan, AL, Wang, GT, Daly, KA, Shendure, J, Bamshad, MJ, Nickerson, DA, Patel, JA, Riazuddin, S, Sale, MM, Chonmaitree, T, Ahmed, ZM, Abes, GT & Leal, SM 2015, 'Rare A2ML1 variants confer susceptibility to otitis media', Nature Genetics, vol. 47, no. 8, pp. 917-920. https://doi.org/10.1038/ng.3347

@article{acc8eadea63d429288918571853f6d18,

title = "Rare A2ML1 variants confer susceptibility to otitis media",

abstract = "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 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.",

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

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AU - Wang, Xin

AU - Acharya, Anushree

AU - Abbe, Izoduwa

AU - Giese, Arnaud P.

AU - Smith, Joshua D.

AU - Allen, E. Kaitlynn

AU - Li, Biao

AU - Cutiongco-De La Paz, Eva Maria

AU - Garcia, Marieflor Cristy

AU - Llanes, Erasmo Gonzalo D.V.

AU - Labra, Patrick John

AU - Gloria-Cruz, Teresa Luisa I.

AU - Chan, Abner L.

AU - Wang, Gao T.

AU - Daly, Kathleen A.

AU - Shendure, Jay

AU - Bamshad, Michael J.

AU - Nickerson, Deborah A.

AU - Patel, Janak A.

AU - Riazuddin, Saima

AU - Sale, Michele M.

AU - Chonmaitree, Tasnee

AU - Ahmed, Zubair M.

AU - Abes, Generoso T.

AU - Leal, Suzanne M.

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Rare A2ML1 variants confer susceptibility to otitis media

Abstract

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