rs11633294 - IGF1R
Magnitude 2.2 · 1 study on file
Reported associations
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Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy - Unknown journal (n.d.) · Unknown authors · PubMed 37017090
ABSTRACT: Background: A large proportion of genetic risk remains unexplained for structural heart disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy (HCM) and ventricular septal defects (VSD). This study sought to develop a reproducible proxy of IVS structure from standard medical imaging, discover novel genetic determinants of IVS structure, and relate these loci to diseases of the IVS, HCM and VSD. Methods: We estimated the cross-sectional area of the interventricular septum (IVS.csad) from the 4-chamber view of cardiac MRI in 32,219 individuals from the UK Biobank which was used as the basis of genome wide association studies (GWAS) and Mendelian Randomization. Results: Measures of IVS.csad were a strong proxy for the 3-dimensional volume of the in
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