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A genetic linkage study is a family-based method used to map a trait to a genomic location by demonstrating co-segregation of the disease with genetic markers of known chromosomal location; locations identified are more likely to contain a causal genetic variant. This technique is particularly useful for the identification of genes that are inherited in a Mendelian fashion.
Telomere shortening marks cellular aging and links to heart disease. Here, the authors show shared genetic loci between leukocyte telomere length and coronary artery disease, highlighting genes such as SH2B3 and pathways involved in DNA biosynthesis and telomere maintenance.
Using inbred medaka strains, the authors mapped 59 genetic loci linked to heart rate. Gene editing validated conserved genes affecting heart rate and morphology, highlighting the power of isogenic strains in uncovering mechanisms of cardiac traits and disease.
In this Journal Club, Adrianna San Roman describes a 1997 study by Rao et al. that exemplifies how thorough measuring of genotypes and phenotypes in a variable human cohort is instrumental to identifying the genetic basis of clinical phenotypes.
Thirty years after the discovery and cloning of the cancer susceptibility gene BRCA1, William Foulkes reflects on this defining moment for breast and ovarian cancer genetics and how far the field has come.
A recent large genetic study by Sanna et al., published in Nature Genetics, has shown that short-chain fatty acids, which are produced by gut microbes, have a significant causal effect on insulin secretion, postprandial glycaemic responses and risk of type 2 diabetes.
