Mayo Clinic Laboratory and pathology research roundup: March 15

The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.
Featured Abstract
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error 0.10) for height and 0.30 (standard error 0.10) for body mass index. Low minor allele frequency variants in low linkage disequilibrium (LD) with neighboring variants were enriched for heritability, to a greater extent for protein-altering variants, consistent with negative selection. Our results imply that rare variants, in particular those in regions of low linkage disequilibrium, are a major source of the still missing heritability of complex traits and disease.
Published to PubMed This Week
- Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
European Heart Journal - Association of plasma glial fibrillary acidic protein (GFAP) with neuroimaging of Alzheimer's disease and vascular pathology.
Alzheimer's & Dementia - The digital transformation of hepatology: The patient is logged in.
Hepatology - Exploiting LRRC15 as a novel therapeutic target in cancer.
Cancer Research - A multicenter evaluation of computable phenotyping approaches for SARS-CoV-2 infection and COVID-19 hospitalizations.
NPJ Digital Medicine - Neurologic effects of gadolinium retention in the brain after gadolinium-based contrast agent administration.
Radiology - Development of a core outcome set for therapeutic studies in eosinophilic esophagitis (COREOS).
Journal of Allergy and Clinical Immunology - Coordinated cross-talk between the myc and mix networks in liver regeneration and neoplasia.
Cellular and Molecular Gastroenterology and Hepatology - Antibodies to severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) in all of us research program participants, 2 January to 18 March 2020.
Clinical of Infectious Diseases - Management and outcomes of acute myocardial infarction-cardiogenic shock in uninsured compared with privately insured individuals.
Circulation: Heart Failure