{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:39:29Z","timestamp":1777660769758,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      variants and a common\n                      <jats:italic toggle=\"yes\">FUT2<\/jats:italic>\n                      variant underwent additional phenological testing. In this study, we describe the audiologic profiles in\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      - and\n                      <jats:italic toggle=\"yes\">FUT2<\/jats:italic>\n                      -related otitis media and the validity of otoscopy and genotyping for\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">FUT2<\/jats:italic>\n                      variants in screening for otitis media and hearing loss.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method:<\/jats:title>\n                    <jats:p>\n                      We analyzed\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">FUT2<\/jats:italic>\n                      genotypes together with demographic, otologic and audiologic data from tympanometry and hearing level assessments of 109 indigenous individuals.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We confirmed previous findings of a spectrum of nonsyndromic otitis media as associated with\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      variants.\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">FUT2<\/jats:italic>\n                      variants were associated with high-frequency hearing loss at 4000\u2009Hz. As expected, young age was associated with flat tympanograms, and eardrum perforations due to chronic otitis media were associated with severe-to-profound hearing loss across frequencies. Adding\n                      <jats:italic toggle=\"yes\">A2ML1<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">FUT2<\/jats:italic>\n                      genotypes improved the validity of otoscopy as a screening test to rule out moderate-to-profound hearing loss.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Continued multi-disciplinary management and audiologic follow-up using tympanometry and screening audiometry are needed to document and treat otitis media and prevent permanent hearing loss in the indigenous community.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2022.0171","type":"journal-article","created":{"date-parts":[[2023,1,31]],"date-time":"2023-01-31T14:33:08Z","timestamp":1675175588000},"page":"12-17","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Audiologic Measures in an Indigenous Community with\n                    <i>A2ML1-<\/i>\n                    and\n                    <i>FUT2-<\/i>\n                    Related Otitis Media"],"prefix":"10.1177","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9958-2535","authenticated-orcid":false,"given":"Regie Lyn P.","family":"Santos-Cortez","sequence":"first","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA."},{"name":"Center for Children's Surgery, Children's Hospital Colorado, Aurora, Colorado, USA."},{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly Mae C.","family":"Ong","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angeli","family":"Carlos-Hiceta","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma. Leah C.","family":"Tantoco","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talitha Karisse L.","family":"Yarza","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma. Luz","family":"San Agustin","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melquiadesa","family":"Pedro","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa Luisa G.","family":"Cruz","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva Maria","family":"Cutiongco-de la Paz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Philippine Genome Center, University of the Philippines Diliman, Quezon City, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Generoso T.","family":"Abes","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erasmo Gonzalo d.V.","family":"Llanes","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abner L.","family":"Chan","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte M.","family":"Chiong","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rina T.","family":"Reyes-Quintos","sequence":"additional","affiliation":[{"name":"Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines."},{"name":"Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,1,31]]},"reference":[{"key":"e_1_3_6_2_1","unstructured":"Acuin J. Chronic suppurative otitis media. Burden of illness and management options. Geneva Switzerland: World Health Organization; 2004. Available from: https:\/\/apps.who.int\/iris\/bitstream\/handle\/10665\/42941\/9241591587.pdf?sequence=1&isAllowed=y Last Accessed 24 January 2023."},{"key":"e_1_3_6_3_1","doi-asserted-by":"publisher","DOI":"10.13110\/humanbiology.87.2.0092"},{"key":"e_1_3_6_4_1","doi-asserted-by":"publisher","DOI":"10.47895\/amp.v48i4.1054"},{"key":"e_1_3_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-018-0368-2"},{"key":"e_1_3_6_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcimb.2021.798246"},{"key":"e_1_3_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-106844"},{"key":"e_1_3_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)32279-7"},{"key":"e_1_3_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(96)01479-6"},{"key":"e_1_3_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2013.06.025"},{"key":"e_1_3_6_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/00016489.2017.1362111"},{"issue":"8","key":"e_1_3_6_12_1","first-page":"1156","article-title":"A2ML1 and otitis media: Novel variants, differential expression and relevant pathways","volume":"40","author":"Larson ED","year":"2019","unstructured":"Larson ED, , Magno JPM, , Steritz MJ, et al. A2ML1 and otitis media: Novel variants, differential expression and relevant pathways. Hum Mutat, 2019; 40(8):1156-1171; doi: 10.1002\/humu.23769","journal-title":"Hum Mutat"},{"key":"e_1_3_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2017.11.008"},{"key":"e_1_3_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-30758-x"},{"key":"e_1_3_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)15495-0"},{"key":"e_1_3_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.010"},{"key":"e_1_3_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3347"},{"key":"e_1_3_6_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40249-016-0189-7"},{"key":"e_1_3_6_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0194599816661703"},{"key":"e_1_3_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2020.02.021"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2022.0171","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2022.0171","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2022.0171","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:23:25Z","timestamp":1777447405000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/gtmb.2022.0171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1089\/gtmb.2022.0171"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2022.0171","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]}}}