Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci
Entity
UAM. Departamento de MedicinaPublisher
BioMed CentralDate
2013-05-24Citation
10.1186/1471-2156-14-44
BMC Genetics 14 (2013): 44
ISSN
1471-2156DOI
10.1186/1471-2156-14-44Funded by
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).Editor's Version
http://dx.doi.org/10.1186/1471-2156-14-44Subjects
Congenital heart defects; Genetics; Genome-wide study; Linkage analysis; MedicinaRights
© 2013 Flaquer et al.; licensee BioMed Central Ltd.Abstract
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, Pempirical = 0.0004) and at
chromosome 18 (18q21.2, Pempirical = 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
Files in this item
Google Scholar:Flaquer, Antònia
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Baumbach, Clemens
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Piñero, Estefanía
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García Algas, Fernando
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De La Fuente Sánchez, María A.
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Rosell, Jordi
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Toquero, Jorge
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Alonso-Pulpón, Luis A.
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García Pavía, Pablo
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Strauch, Konstantin
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Heine-Suñer, Damián
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