Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec. Dubé, M., Bigras, J., Thibeault, M., Bureau, N., Chetaille, P., Richter, A., Mercier, J., Bellavance, M., Rohlicek, C., Rozen, R., Nemer, M., Khairy, P., Gendron, R., & Andelfinger, G. Cardiology in the Young, 21(06):654-664, 12, 2011. ![Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec [link]](https://bibbase.org/img/filetypes/link.svg "link")
Website abstract bibtex BACKGROUND 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. METHODS 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). RESULTS 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 0.46-0.52 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. CONCLUSION 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.
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title = {Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec},
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year = {2011},
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month = {12},
day = {4},
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abstract = {BACKGROUND 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. METHODS 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). RESULTS 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 0.46-0.52 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. CONCLUSION 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.},
bibtype = {article},
author = {Dubé, Marie-Pierre and Bigras, Jean-Luc and Thibeault, Maryse and Bureau, Nathalie and Chetaille, Philippe and Richter, Andrea and Mercier, Jocelyne and Bellavance, Marc and Rohlicek, Charles and Rozen, Rima and Nemer, Mona and Khairy, Paul and Gendron, Roxanne and Andelfinger, Gregor},
journal = {Cardiology in the Young},
number = {06}
}
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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. METHODS 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). RESULTS 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 0.46-0.52 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. CONCLUSION 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.","bibtype":"article","author":"Dubé, Marie-Pierre and Bigras, Jean-Luc and Thibeault, Maryse and Bureau, Nathalie and Chetaille, Philippe and Richter, Andrea and Mercier, Jocelyne and Bellavance, Marc and Rohlicek, Charles and Rozen, Rima and Nemer, Mona and Khairy, Paul and Gendron, Roxanne and Andelfinger, Gregor","journal":"Cardiology in the Young","number":"06","bibtex":"@article{\n title = {Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec},\n type = {article},\n year = {2011},\n identifiers = {[object Object]},\n pages = {654-664},\n volume = {21},\n websites = {http://www.ncbi.nlm.nih.gov/pubmed/21729494,http://www.journals.cambridge.org/abstract_S1047951111000813},\n month = {12},\n day = {4},\n id = {73438078-bcd1-3508-8872-1dd6c6e810db},\n created = {2017-06-21T12:46:28.124Z},\n accessed = {2017-06-21},\n file_attached = {false},\n profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},\n group_id = {142ce6b1-cc47-3cb1-ab91-7ebedfe4b5c2},\n last_modified = {2017-06-21T13:17:18.187Z},\n read = {false},\n starred = {false},\n authored = {false},\n confirmed = {true},\n hidden = {false},\n abstract = {BACKGROUND Congenital cardiac disease is the most common malformation, and a substantial source of mortality and morbidity in children and young adults. 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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. CONCLUSION 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. 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