Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci
| Autor: | Damian Heine-Suñer, Konstantin Strauch, Clemens Baumbach, Jordi Rosell, Fernando García Algas, Pablo García-Pavía, Luis Alonso-Pulpón, María Angeles de la Fuente Sanchez, Antònia Flaquer, Jorge Toquero, Estefania Piñero |
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| Přispěvatelé: | UAM. Departamento de Medicina |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Heart Defects
Congenital Candidate gene Genetic Linkage Medicina humanos Genome-wide association study Biology Genome-wide study Chromosomes Chromosome 15 Chromosome 18 Genetic linkage medicine Genetics Humans Genetics(clinical) cardiovascular diseases Genetics (clinical) Tetralogy of Fallot Linkage (software) Chromosomes Human Pair 15 ligamiento genético medicine.disease cromosomas Congenital heart defects Linkage analysis estudio de asociación genómica completa Abnormality Chromosomes Human Pair 18 Genome-Wide Association Study Research Article |
| Zdroj: | BMC Genet. 14:44 (2013) BMC Genetics Biblos-e Archivo. Repositorio Institucional de la UAM instname |
| DOI: | 10.1186/1471-2156-14-44 |
| Popis: | Background: Congenital heart defects (CHD) is the most common cause of death from a congenital structure abnormality in newborns and is often associated with fetal loss. There are many types of CHD. Human genetic studies have identified genes that are responsible for the inheritance of a particular type of CHD and for some types of CHD previously thought to be sporadic. However, occasionally different members of the same family might have anatomically distinct defects - for instance, one member with atrial septal defect, one with tetralogy of Fallot, and one with ventricular septal defect. Our objective is to identify susceptibility loci for CHD in families affected by distinct defects. The occurrence of these apparently discordant clinical phenotypes within one family might hint at a genetic framework common to most types of CHD. Results: We performed a genome-wide linkage analysis using MOD score analysis in families with diverse CHD. Significant linkage was obtained in two regions, at chromosome 15 (15q26.3, P-empirical = 0.0004) and at chromosome 18 (18q21.2, P-empirical = 0.0005). Conclusions: In these two novel regions four candidate genes are located: SELS, SNRPA1, and PCSK6 on 15q26.3, and TCF4 on 18q21.2. The new loci reported here have not previously been described in connection with CHD. Although further studies in other cohorts are needed to confirm these findings, the results presented here together with recent insight into how the heart normally develops will improve the understanding of CHD. The authors are grateful to the patients and their families for their participation in the study. This study was supported by the grants from the Instituto de Salud Carlos III (08-1363 and 11-0699) of the Spanish Ministry of Health and by grant Str643/4-1 of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation). |
| Databáze: | OpenAIRE |
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