Document Details

Document Type : Article In Journal 
Document Title :
The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study
The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study
Document Language : English 
Abstract : Background: Bicuspid aortic valve is themost common cardiovascular congenitalmalformation affecting 2% of the general population. The incidence of life-threatening complications, the high heritability, and familial clustering rates support the interest in identifying risk or protective genetic factors. The main objective of the present study was to identify population-based genetic variation associatedwith bicuspid aortic valve and concomitant ascending aortic dilation. Materials and methods: A cross-sectional exome-wide association study was conducted in 565 Spanish cases and 484 controls. Single-marker and gene-based association analyses enriched for low frequency and rare genetic variants were performed on this discovery stage cohort and for the subsets of cases with and without ascending aortic dilation. Discovery-stage association signals and additional markers indirectly associated with bicuspid aortic valve, were genotyped in a replication cohort that comprised 895 Caucasian cases and 1483 controls. Results: Although none of the association signalswere consistent across series, the involvement of HMCN2 in calciummetabolismand valve degeneration caused by calciumdeposit, and a nominal but not genome-wide significant association, supported it as an interesting gene for follow-up studies on the genetic susceptibility to bicuspid aortic valve. Conclusions: The absence of a genome-wide significant association signal shows this valvular malformation may be more genetically complex than previously believed. Exhaustive phenotypic characterization, even larger datasets, and collaborative efforts are needed to detect the combination of rare variants conferring risk which, along with specific environmental factors, could be causing the development of this disease. 
ISSN : 0022-2828 
Journal Name : Journal of Molecular and Cellular Cardiology 
Volume : 102 
Issue Number : 1 
Publishing Year : 1438 AH
2017 AD
Article Type : Article 
Added Date : Wednesday, May 17, 2017 


Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Teresa SevillaSevilla, Teresa InvestigatorDoctorate 
Christopher Newton-ChehNewton-Cheh, Christopher ResearcherDoctorate 
Ángel CarracedoCarracedo, Ángel ResearcherDoctorate 
Daniel MuehlschlegelMuehlschlegel, Daniel ResearcherDoctorate 
David García-DoradoGarcía-Dorado, David ResearcherDoctorate 
Simon C BodyBody, Simon CResearcherDoctorate 
Artur EvangelistaEvangelista, Artur ResearcherDoctorate 


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