دورية أكاديمية
Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci
| العنوان: | Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci |
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| المؤلفون: | Flaquer, Antònia, Baumbach, Clemens, Piñero, Estefanía, García Algas, Fernando, De La Fuente Sánchez, María A., Rosell, Jordi, Toquero, Jorge, Alonso-Pulpón, Luis A., García-Pavía, Pablo, Strauch, Konstantin, Heine-Suñer, Damián |
| المساهمون: | UAM. Departamento de Medicina |
| بيانات النشر: | BioMed Central |
| سنة النشر: | 2014 |
| المجموعة: | Universidad Autónoma de Madrid (UAM): Biblos-e Archivo |
| مصطلحات موضوعية: | Congenital heart defects, Genetics, Genome-wide study, Linkage analysis, Medicina |
| الوصف: | 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 ; 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). |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1471-2156 |
| العلاقة: | BMC Genetics; http://dx.doi.org/10.1186/1471-2156-14-44Test; BMC Genetics 14 (2013): 44; http://hdl.handle.net/10486/662252Test; 44; 14 |
| DOI: | 10.1186/1471-2156-14-44 |
| الإتاحة: | https://doi.org/10.1186/1471-2156-14-44Test http://hdl.handle.net/10486/662252Test |
| حقوق: | © 2013 Flaquer et al.; licensee BioMed Central Ltd. ; Reconocimiento ; openAccess |
| رقم الانضمام: | edsbas.629440C0 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14712156 |
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| DOI: | 10.1186/1471-2156-14-44 |