{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T03:59:39Z","timestamp":1778817579441,"version":"3.51.4"},"reference-count":15,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2010,3,4]],"date-time":"2010-03-04T00:00:00Z","timestamp":1267660800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951109991284_abs1\" sec-type=\"general\"><jats:title>Objective<\/jats:title><jats:p>Mitral valvar prolapse is the most common anomaly of the mitral valve apparatus throughout childhood. Fibrillin is one of the structural components of the elastin-associated microfibrils found in the mitral valve. A case-controlled study has performed to investigate the relationship between <jats:italic>fibrillin 1<\/jats:italic> gene intron 56 polymorphism and risk of mitral valvar prolapse in Turkish children.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951109991284_abs2\" sec-type=\"general\"><jats:title>Patients and methods<\/jats:title><jats:p>A total of 77 patients with mitral valvar prolapse diagnosed by clinical evaluation and echocardiography and 89 normal children of same age and sex were studied. The <jats:italic>fibrillin-1<\/jats:italic> gene intron 56 polymorphism was identified by the polymerase chain reaction-based restriction analysis.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951109991284_abs3\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>There was a significant difference in the distribution of <jats:italic>fibrillin-1<\/jats:italic> gene intron 56 genotypes (p = 0.0001) and allelic frequency (p = 0.0001) between the cases and the controls.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951109991284_abs4\" sec-type=\"conclusion\"><jats:title>Conclusions<\/jats:title><jats:p>Patients with mitral valvar prolapse have higher frequencies of <jats:italic>fibrillin-1<\/jats:italic> gene intron 56 GC genotypes. Healthy children have higher frequencies of <jats:italic>fibrillin-1<\/jats:italic> gene intron 56 CC genotypes. We speculate that the higher frequency of <jats:italic>fibrillin-1<\/jats:italic> gene intron 56 G-allele increases the risk of mitral valvar prolapse.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951109991284","type":"journal-article","created":{"date-parts":[[2010,3,4]],"date-time":"2010-03-04T11:58:44Z","timestamp":1267703924000},"page":"173-177","source":"Crossref","is-referenced-by-count":6,"title":["<i>Fibrillin-1<\/i> gene intron 56 polymorphism in Turkish children with mitral valve prolapse"],"prefix":"10.1017","volume":"20","author":[{"given":"Osman","family":"Ozdemir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rana","family":"Olgunturk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kadri","family":"Karaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Ali","family":"Ergun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Sedef","family":"Tunaoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Kula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda Emriye","family":"Percin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2010,3,4]]},"reference":[{"key":"S1047951109991284_ref5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.104.516930"},{"key":"S1047951109991284_ref4","doi-asserted-by":"publisher","DOI":"10.1086\/375452"},{"key":"S1047951109991284_ref3","doi-asserted-by":"publisher","DOI":"10.1086\/302624"},{"key":"S1047951109991284_ref2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199907013410101"},{"key":"S1047951109991284_ref10","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)02161-7"},{"key":"S1047951109991284_ref6","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1989.03430040095032"},{"key":"S1047951109991284_ref15","first-page":"475","article-title":"Association between fibrillin 1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse","volume":"12","author":"Chou","year":"2003","journal-title":"J Heart Valve Dis"},{"key":"S1047951109991284_ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8175.2006.00234.x"},{"key":"S1047951109991284_ref9","first-page":"233","article-title":"Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management","volume":"58","author":"Loeys","year":"2002","journal-title":"Acta Clinica Belgica"},{"key":"S1047951109991284_ref1","first-page":"946","volume-title":"Moss and Adams\u2019 Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult","author":"Boudoulas","year":"2008"},{"key":"S1047951109991284_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(95)90397-6"},{"key":"S1047951109991284_ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039669"},{"key":"S1047951109991284_ref13","doi-asserted-by":"publisher","DOI":"10.1086\/301747"},{"key":"S1047951109991284_ref14","doi-asserted-by":"publisher","DOI":"10.1172\/JCI23701"},{"key":"S1047951109991284_ref12","first-page":"2","volume-title":"Moss and Adams\u2019 Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult","author":"Edwards","year":"2008"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951109991284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,28]],"date-time":"2019-04-28T20:17:48Z","timestamp":1556482668000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951109991284\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,4]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["S1047951109991284"],"URL":"https:\/\/doi.org\/10.1017\/s1047951109991284","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,4]]}}}