rs11000752 - BMS1P4, BMS1P4, BMS1P4-AGAP5

Magnitude 2.2 · 2 studies on file

Reported associations

• 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

• Trans-ethnic association study of blood pressure determinants in over 750,000 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 30578418

  ABSTRACT: In this trans-ethnic multi-omic study we reinterpret the genetic architecture of blood pressure to identify genes, tissues, phenome, and medication contexts of blood pressure homeostasis. We discovered 208 novel common blood pressure SNPs and 53 rare variants in GWASs of systolic, diastolic and pulse pressure in up to 776,078 participants from the Million Veteran Program (MVP) and collaborating studies, with analysis of the blood pressure clinical phenome in MVP. Our transcriptome-wide association study detected 4,043 blood pressure associations with genetically-predicted gene expression of 840 genes in 45 tissues, and murine renal single-cell RNA sequencing identified upregulated blood pressure genes in kidney tubule cells. Editorial summary: Analysis of blood pressure data from

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