{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,3]],"date-time":"2022-04-03T21:05:31Z","timestamp":1649019931856},"reference-count":45,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2011,7,4]],"date-time":"2011-07-04T00:00:00Z","timestamp":1309737600000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951111000813_abs1\" sec-type=\"general\"><jats:title>Background<\/jats:title><jats:p>Congenital cardiac disease is the most common malformation, and a substantial source of mortality and morbidity in children and young adults. A role for genetic factors is recognised for these malformations, but overall few predisposing loci have been identified. Here we report the rationale, design, and first results of a multi-institutional congenital cardiac disease cohort, assembled mainly from the French-Canadian population of the province of Quebec and centred on families with multiple affected members afflicted by cardiac malformations.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951111000813_abs2\" sec-type=\"methods\"><jats:title>Methods<\/jats:title><jats:p>Families were recruited into the study, phenotyped and sampled for DNA in cardiology clinics over the first 3 years of enrolment. We performed segregation analysis and linkage simulations in the subgroup of families with left ventricular outflow tract obstruction (LVOTO).<\/jats:p><\/jats:sec><jats:sec id=\"S1047951111000813_abs3\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>A total of 1603 participants from 300 families were recruited, with 169 out of 300 (56.3%) families having more than one affected member. For the LVOTO group, we estimate heritability to be 0.46\u20130.52 in our cohort. Simulation analysis demonstrated sufficient power to carry out linkage analyses, with an expected mean log-of-odds (LOD) score of 3.8 in 67 pedigrees with LVOTO.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951111000813_abs4\" sec-type=\"conclusion\"><jats:title>Conclusion<\/jats:title><jats:p>We show feasibility and usefulness of a population-based biobank for genetic investigations into the causes of congenital cardiac disease. Heritability of LVOTO is high and could be accounted for by multiple loci. This platform is ideally suited for multiple analysis approaches, including linkage analysis and novel gene sequencing approaches, and will allow to establish segregation of risk alleles at family and population levels.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951111000813","type":"journal-article","created":{"date-parts":[[2011,7,4]],"date-time":"2011-07-04T13:16:53Z","timestamp":1309785413000},"page":"654-664","source":"Crossref","is-referenced-by-count":0,"title":["Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec"],"prefix":"10.1017","volume":"21","author":[{"given":"Marie-Pierre","family":"Dub\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Luc","family":"Bigras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryse","family":"Thibeault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Bureau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Chetaille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Richter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jocelyne","family":"Mercier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Bellavance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Rohlicek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rima","family":"Rozen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Nemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Khairy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxanne","family":"Gendron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregor","family":"Andelfinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2011,7,4]]},"reference":[{"key":"S1047951111000813_ref43","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"S1047951111000813_ref40","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.10.888"},{"key":"S1047951111000813_ref38","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.11.4175"},{"key":"S1047951111000813_ref34","first-page":"143","volume-title":"Moss\u2019 and Adams\u2019 Heart Disease in Infants, Children and Adolescents","author":"Allen","year":"2001"},{"key":"S1047951111000813_ref31","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00954.x"},{"key":"S1047951111000813_ref29","doi-asserted-by":"publisher","DOI":"10.1086\/432491"},{"key":"S1047951111000813_ref27","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.69"},{"key":"S1047951111000813_ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.012"},{"key":"S1047951111000813_ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0316-9"},{"key":"S1047951111000813_ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2008.12.023"},{"key":"S1047951111000813_ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.07.021"},{"key":"S1047951111000813_ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.03.050"},{"key":"S1047951111000813_ref16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.420"},{"key":"S1047951111000813_ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30602"},{"key":"S1047951111000813_ref11","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(03)00853-2"},{"key":"S1047951111000813_ref10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.3.188"},{"key":"S1047951111000813_ref9","first-page":"1492","article-title":"Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome","volume":"143","author":"Brenner","year":"1989","journal-title":"Am J Dis Child"},{"key":"S1047951111000813_ref3","volume-title":"Congenital anomalies in Canada \u2013 a perinatal health report","year":"2002"},{"key":"S1047951111000813_ref7","volume-title":"Genetic and environmental risk factors of major cardiovascular malformations: the Baltimore\u2013Washington Infant Study: 1981\u20131989","author":"Ferencz","year":"1997"},{"key":"S1047951111000813_ref6","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.857987"},{"key":"S1047951111000813_ref32","unstructured":"32. 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