{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:21:27Z","timestamp":1761744087066,"version":"3.37.3"},"reference-count":48,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T00:00:00Z","timestamp":1432252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001409","name":"Department of Science and Technology, Ministry of Science and Technology","doi-asserted-by":"publisher","award":["SR\/SO\/HS-0035\/2012; Dated: 21.05.2013"],"award-info":[{"award-number":["SR\/SO\/HS-0035\/2012; Dated: 21.05.2013"]}],"id":[{"id":"10.13039\/501100001409","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Otosclerosis (OTSC) is a late\u2010onset hearing disorder characterized by increased bone turnover in the otic capsule. Disturbed osteoprotegerin expression has been found in the otosclerotic foci which may have an important role in the pathogenesis of OTSC. To identify the genetic risk factors, we sequenced the coding region and exon\u2010intron boundaries of the <jats:italic>OPG<\/jats:italic> gene in 254 OTSC patients and 262 controls. Sequence analysis identified five known polymorphisms c.9C&gt;G, c.30+15C&gt;T, c.400+4C&gt;T, c.768A&gt;G, and c.817+8A&gt;C. Testing of these SNPs revealed sex specific association with c.9C&gt;G in males and c.30+15C&gt;T in females after multiple correction. Furthermore, meta\u2010analysis provided evidence of association of the c.9C&gt;G polymorphism with OTSC. In secondary analysis, we investigated the mRNA expression of <jats:italic>OPG<\/jats:italic> and associated genes <jats:italic>RANK<\/jats:italic> and <jats:italic>RANKL<\/jats:italic> in otosclerotic tissues compared to controls. Expression analysis revealed significantly missing\/reduced <jats:italic>OPG<\/jats:italic> expression only in otosclerotic tissues. However, the signal sequence polymorphism c.9C&gt;G has shown no effect on <jats:italic>OPG<\/jats:italic> mRNA expression. In conclusion, our results suggest that the risk of OTSC is influenced by variations in the <jats:italic>OPG<\/jats:italic> gene along with other factors which might regulate its altered expression in otosclerotic tissues. Further research is warranted to elucidate the mechanisms underlying these observations.<\/jats:p>","DOI":"10.1111\/ahg.12118","type":"journal-article","created":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T10:12:06Z","timestamp":1432289526000},"page":"225-237","source":"Crossref","is-referenced-by-count":14,"title":["Genetic Association and Altered Gene Expression of Osteoprotegerin in Otosclerosis Patients"],"prefix":"10.1111","volume":"79","author":[{"given":"Saurabh","family":"Priyadarshi","sequence":"first","affiliation":[{"name":"Institute of Life Sciences Nalco Square  Chandrasekharpur Bhubaneswar India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chinmay Sundar","family":"Ray","sequence":"additional","affiliation":[{"name":"Department of Ear, Nose, and Throat (ENT) Shrirama Chandra Bhanj (SCB) Medical College  Cuttack India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narayan Chandra","family":"Biswal","sequence":"additional","affiliation":[{"name":"Department of Ear, Nose, and Throat (ENT) Shrirama Chandra Bhanj (SCB) Medical College  Cuttack India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumya Ranjan","family":"Nayak","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine &amp; Toxicology (FMT) Shrirama Chandra Bhanj (SCB) Medical College  Cuttack India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khirod Chandra","family":"Panda","sequence":"additional","affiliation":[{"name":"Ear, Nose, and Throat (ENT) Unit Capital Hospital, Unit VI  Bhubaneswar India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashim","family":"Desai","sequence":"additional","affiliation":[{"name":"Dr. ABR Desai Ear Nose and Throat (ENT) Clinic and Research Centre  Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Puppala Venkat","family":"Ramchander","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences Nalco Square  Chandrasekharpur Bhubaneswar India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0470-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.132.4.416"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.473"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.12.2095"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e3181e3dedf"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.18.2119"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.040602"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.7.1.18753"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2008.03.001"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000000244"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2009.07.002"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e3181be643f"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001090100226"},{"key":"e_1_2_7_15_1","first-page":"320","article-title":"The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population","volume":"33","author":"Iossa S.","year":"2013","journal-title":"Acta Otorhinolaryngol Ital"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12070-014-0706-6"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-010-1404-y"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mlg.0000225928.35838.e5"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLG.0b013e31817c133d"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2010.00595.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2011.00665.x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/479482"},{"key":"e_1_2_7_24_1","first-page":"604","article-title":"Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta","volume":"19","author":"McKenna M. 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