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Last Posted: Jan 12, 2023
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Finding causal genes underlying risk for coronary artery disease
PL Auer, Nature Genetics, December 6, 2022

Previous genome-wide association studies of coronary artery disease (CAD) have discovered multiple susceptibility loci but have largely failed to uncover causal genes. A new study identifies hundreds of likely causal genes underlying the genetic risk for CAD.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
KG Aragam et al, Nature Genetics, December 6, 2022

The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci.

Genetic Basis of Childhood Cardiomyopathy
RD Bagnall et al, Circ Genomics Prec Medicine, October 12, 2022

We recruited children from a pediatric cardiology service or genetic heart diseases clinic. We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Genetics and Genomics guidelines. The highest genetic testing diagnostic yields were in restrictive cardiomyopathy (n=16, 80%) and hypertrophic cardiomyopathy (n=65, 66%), and lowest in dilated cardiomyopathy (n=26, 29%) and left ventricular noncompaction (n=3, 25%). Pathogenic variants were primarily found in genes encoding sarcomere proteins, with TNNT2 and TNNI3 variants associated with more severe clinical outcomes.

Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features
Y Wang et al, JAMA Cardiology, September 15, 2022

In a whole-exome sequencing genetic study, 17% of individuals with high-risk SCAD had rare variants in vascular connective tissue disease genes, representing a significant enrichment compared with the Genome Aggregation Database (gnomAD), especially in COL3A1 and Loeys-Dietz syndrome genes. Rare variants in genes recently discovered by genome-wide association study, ADAMTSL4 and LRP1, identified in 6% of the cohort, were also enriched.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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