تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
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
 
لغة الوثيقة : الانجليزية 
المستخلص : 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. 
ردمد : 0022-2828 
اسم الدورية : Journal of Molecular and Cellular Cardiology 
المجلد : 102 
العدد : 1 
سنة النشر : 1438 هـ
2017 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Wednesday, May 17, 2017 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
Teresa SevillaSevilla, Teresa باحث رئيسيدكتوراه 
Christopher Newton-ChehNewton-Cheh, Christopher باحثدكتوراه 
Ángel CarracedoCarracedo, Ángel باحثدكتوراه 
Daniel MuehlschlegelMuehlschlegel, Daniel باحثدكتوراه 
David García-DoradoGarcía-Dorado, David باحثدكتوراه 
Simon C BodyBody, Simon Cباحثدكتوراه 
Artur EvangelistaEvangelista, Artur باحثدكتوراه 

الملفات

اسم الملفالنوعالوصف
 40771.pdf pdf 

الرجوع إلى صفحة الأبحاث