rs112998238 - PPP1R12B
Magnitude 2.0 · 1 study on file
Reported associations
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Genome-wide Association Meta-analysis Supports Genes Involved in Valve and Cardiac Development to Associate with Mitral Valve Prolapse - Unknown journal (n.d.) · Unknown authors · PubMed 34461747
ABSTRACT: Background. Mitral valve prolapse (MVP) is a common cardiac valve disease, which affects 1 in 40 in the general population. Previous GWAS have identified six risk loci for MVP. But these loci explained only partially the genetic risk for MVP. We aim to identify additional risk loci for MVP by adding dataset from the UKBiobank. Methods. We reanalyzed 1007 cases and 1469 controls from the MVP-France study and 479 cases and 862 controls from the MVP-Nantes study for genotype reimputation using HRC and TOPMed panels. We also incorporated 434 MVP cases and 4,527 controls from the UKBiobank for discovery analyses. Genetic association was conducted using SNPTEST and meta-analyses using METAL. We used FUMA for post-GWAS annotations and MAGMA for gene-based and gene-set analyses. Results.
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