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 & 9 others Michael 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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