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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)917-920
Number of pages4
JournalNature Genetics
Volume47
Issue number8
DOIs
StatePublished - Aug 30 2015
Externally publishedYes

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Otitis Media
Otitis
Penetrance
Middle Ear
Pedigree
Hispanic Americans
Haplotypes
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Santos-Cortez, R. L. P., Chiong, C. M., Reyes-Quintos, M. R. T., Tantoco, M. L. C., Wang, X., Acharya, 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

Rare A2ML1 variants confer susceptibility to otitis media. / 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; Riazuddin, Saima; Sale, Michele M.; Chonmaitree, Tasnee; Ahmed, Zubair M.; Abes, Generoso T.; Leal, Suzanne M.

In: Nature Genetics, Vol. 47, No. 8, 30.08.2015, p. 917-920.

Research output: Contribution to journalArticle

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, J, 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
Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A et al. Rare A2ML1 variants confer susceptibility to otitis media. Nature Genetics. 2015 Aug 30;47(8):917-920. https://doi.org/10.1038/ng.3347
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 ; Riazuddin, Saima ; Sale, Michele M. ; Chonmaitree, Tasnee ; Ahmed, Zubair M. ; Abes, Generoso T. ; Leal, Suzanne M. / Rare A2ML1 variants confer susceptibility to otitis media. In: Nature Genetics. 2015 ; Vol. 47, No. 8. pp. 917-920.
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