Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 64,834 bioRxiv papers from 287,425 authors.
Genome-wide analysis yields new loci associating with aortic valve stenosis
Olafur A. Stefansson,
Rosa B Thorolfsdottir,
Jonas B. Nielsen,
Emil L. Sigurdsson,
Chad M Brummett,
Simon C. Body,
Cristen J. Willer,
J. Gustav Smith,
Daniel F. Gudbjartsson,
Posted 03 Nov 2017
bioRxiv DOI: 10.1101/213595 (published DOI: 10.1038/s41467-018-03252-6)
Posted 03 Nov 2017
Aortic valve stenosis (AS) is the most common valvular heart disease, characterized by a thickened and calcified valve causing left ventricular outflow obstruction. Severe AS is a significant cause of morbidity and mortality, affecting approximately 5% of those over 70 years of age. Little is known about the genetics of AS, although recently a variant at the LPA locus and a rare MYH6 missense variant were found to associate with AS. We report a large genome-wide association study (GWAS) with a follow-up in up to 7,307 AS cases and 801,073 controls. We identified two new AS loci, on chromosome 1p21 near PALMD (rs7543130; OR=1.20, P=1.2x10-22) and on chromosome 2q22 in TEX41 (rs1830321; OR=1.15, P=1.8x10-13). Rs7543130 also associates with bicuspid aortic valve (BAV) (OR=1.28, P=6.6x10-10) and aortic root diameter (P=1.30x10-8) and rs1830321 associates with BAV (OR=1.12, P=5.3x10-3) and coronary artery disease (CAD) (OR=1.05, P=9.3x10-5). These results indicate that AS is partly rooted in the same processes as cardiac development and atherosclerosis.
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