{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T08:32:42Z","timestamp":1693989162462},"reference-count":12,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2012,10,16]],"date-time":"2012-10-16T00:00:00Z","timestamp":1350345600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ISRN Otolaryngology"],"published-print":{"date-parts":[[2012,10,16]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>. Aquaporin 5 plays an important role in maintaining inner ear water and fluid homeostasis. Since the aquaporin (AQP) 5 promoter-1364A\/C polymorphism is associated with altered AQP5 expression and this could impact upon key mechanisms of Meni\u00e8re\u2019s disease, we tested the hypothesis that genotypes of the AQP5 promoter-1364A\/C polymorphism are associated with the incidences of Meni\u00e8re\u2019s disease (MD), familial Meni\u00e8re\u2019s disease (FMD), or endolymphatic hydrops (EH).<jats:italic>Methods<\/jats:italic>. With approval of the local ethics committee, DNA of 102 patients (39 with MD, 54 with FMD, and 9 with EH) and of 292-matched Caucasian controls was isolated from blood samples and genotyped for the<jats:italic>AQP 5<\/jats:italic>promoter-1364A\/C polymorphism. The<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:msup><mml:mi>\u03c7<\/mml:mi><mml:mn>2<\/mml:mn><\/mml:msup><\/mml:mrow><\/mml:math>-test was applied to compare genotype distributions and allele frequencies between patients and controls.<jats:italic>Results<\/jats:italic>. Overall, genotype frequencies were not different between controls (AA 69%, AC 30%, CC 1%) and patients with MD AA: 65.7% (23 MD, 37 FMD, and 8 EH); AC: 23.5% (12 MD, 11 FMD, and 1 EH); CC: 3.9% (1 MD, 3 FMD, and 0 EH). However, subgroup analysis revealed the CC genotype to be more frequent in patients with FMD (5.9%) than in healthy controls (1%) (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mrow><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.042<\/mml:mn><\/mml:mrow><\/mml:math>).<jats:italic>Conclusions<\/jats:italic>. Overall, genotypes of the -1364A\/C<jats:italic>AQP5<\/jats:italic>gene polymorphism are not associated with a significant increased risk for Meni\u00e8re\u2019s disease.<\/jats:p>","DOI":"10.5402\/2012\/706896","type":"journal-article","created":{"date-parts":[[2012,10,18]],"date-time":"2012-10-18T16:04:49Z","timestamp":1350576289000},"page":"1-4","source":"Crossref","is-referenced-by-count":2,"title":["The -1364A\/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Meni\u00e8re\u2019s Disease"],"prefix":"10.5402","volume":"2012","author":[{"given":"Diana","family":"Arweiler-Harbeck","sequence":"first","affiliation":[{"name":"Klinik f\u00fcr Hals-Nasen-Ohrenheilkunde, University of Duisburg-Essen, 45122 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Freschta","family":"Saidi","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Hals-Nasen-Ohrenheilkunde, University of Duisburg-Essen, 45122 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Lang","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Hals-Nasen-Ohrenheilkunde, University of Duisburg-Essen, 45122 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Peters","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr An\u00e4sthesiologie und Intensivmedizin, University of Duisburg-Essen and Universit\u00e4tsklinikum Essen, 45122 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winfried","family":"Siffert","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Pharmakogenetik, University of Duisburg-Essen, 45122 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Adamzik","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr An\u00e4sthesiologie und Intensivmedizin, University of Duisburg-Essen and Universit\u00e4tsklinikum Essen, 45122 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.1323"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1023636620721"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1007\/s00395-008-0750-z"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/S0194-5998(95)70102-8"},{"key":"5","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1097\/MAO.0b013e318216074a","volume":"32","year":"2011","journal-title":"Otology & Neurotology"},{"issue":"9","key":"6","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1681\/ASN.V1091921","volume":"10","year":"1999","journal-title":"Journal of the American Society of Nephrology"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.1999.00399.x"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/S0030-6665(02)00017-8"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1007\/s11882-007-0069-0"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30347"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-002-3033-7"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2009.09.002"}],"container-title":["ISRN Otolaryngology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/archive\/2012\/706896.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/archive\/2012\/706896.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/archive\/2012\/706896.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,30]],"date-time":"2022-01-30T10:26:04Z","timestamp":1643538364000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/isrn\/2012\/706896\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,16]]},"references-count":12,"alternative-id":["706896","706896"],"URL":"https:\/\/doi.org\/10.5402\/2012\/706896","relation":{},"ISSN":["2090-5750"],"issn-type":[{"value":"2090-5750","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,16]]}}}