{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T04:13:40Z","timestamp":1695528820449},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,12,23]],"date-time":"2015-12-23T00:00:00Z","timestamp":1450828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["RETIC","RD12\/0042\/0049"],"award-info":[{"award-number":["RETIC","RD12\/0042\/0049"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras","doi-asserted-by":"publisher","award":["PS09\/00721"],"award-info":[{"award-number":["PS09\/00721"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hypertrophic cardiomyopathy (<jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content>) is characterized by cardiomyocyte hypertrophy and fibrosis. Although is an autosomal dominant trait, a group of nonsarcomeric genes have been postulated as modifiers of the phenotypic heterogeneity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>We prospectively recruited 168 <jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content> patients and 136 healthy controls from three referral centres. Patients and controls were clinically stable at entry in the study. Nine polymorphisms previously associated with ventricular remodelling were determined: I\/D <jats:styled-content style=\"fixed-case\">ACE<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> AGTR<\/jats:styled-content>1(A1666C), <jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>11B2(C344T), <jats:styled-content style=\"fixed-case\">PGC<\/jats:styled-content>1\u2010\u03b1(G482S), <jats:styled-content style=\"fixed-case\">COLIA<\/jats:styled-content>1(G2046T), <jats:styled-content style=\"fixed-case\">ADRB<\/jats:styled-content>1(R389G), <jats:styled-content style=\"fixed-case\">NOS<\/jats:styled-content>3(G894T), <jats:styled-content style=\"fixed-case\">RETN<\/jats:styled-content>(\u2010420C&gt;G) and <jats:styled-content style=\"fixed-case\">CALM<\/jats:styled-content>3(\u201034T&gt;A). Their potential influence on prognosis, assessed by hospital admissions, and their cause were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median follow\u2010up time was 49\u00b75 months. Allele and genotype frequencies did not differ between patients and controls. Thirty\u2010six patients (21\u00b75%) required urgent hospitalization (18\u00b75% for heart failure, 22\u00b72% for atrial arrhythmias, 11\u00b71% for ventricular arrhythmias, 29\u00b76% for ischaemic heart disease, 14\u00b78% for stroke and 3\u00b77% for other reasons) with a hospitalization rate of 8\u00b775% per year. Multivariate analysis showed an independent predictive value for noncarriers of polymorphic <jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>1A1 allele [<jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content>: 2\u00b776(1\u00b726\u20136\u00b705), <jats:italic>P<\/jats:italic> = 0\u00b7011] and a trend in homozygous carriers of <jats:styled-content style=\"fixed-case\">ADRB<\/jats:styled-content>1 Arg389 variant [<jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content>: 1\u00b798(0\u00b799\u20134\u00b702); <jats:italic>P<\/jats:italic> = 0\u00b7057].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study suggests that <jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>1A1 polymorphism (2046G&gt;T) is an independent predictor of prognosis in <jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content> patients supporting the importance of nonsarcomeric genes on clinical prognosis in <jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/eci.12572","type":"journal-article","created":{"date-parts":[[2015,11,26]],"date-time":"2015-11-26T13:27:47Z","timestamp":1448544467000},"page":"123-129","source":"Crossref","is-referenced-by-count":1,"title":["Clinical implications of nonsarcomeric gene polymorphisms in hypertrophic cardiomyopathy"],"prefix":"10.1111","volume":"46","author":[{"given":"Antonio","family":"Garc\u00eda\u2010Honrubia","sequence":"first","affiliation":[{"name":"Department of Cardiology Hospital General Universitario de Elche Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Hern\u00e1ndez\u2010Romero","sequence":"additional","affiliation":[{"name":"Department of Cardiology Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, University of Murcia, IMIB\u2010Arrixaca Murcia 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