An international team of researchers has examined parent-of-origin effects on loci linked to cardio-metabolic traits through genome-wide association studies in a PLOS Genetics paper this week. The team led by David Siscovick from the New York Academy of Medicine focused on 18 genes in 1,250 young adults and their mothers and found that that when the rs1367117 variant in the APOB gene on chromosome 2 is inherited from the mother, but not when it's inherited from the father, it is related to body mass index and waist circumference. This, Siscovick and his team say, indicates that complex genetic mechanisms are at play in obesity and that family studies may be useful for finding genetic pathways underlying common risk factors and diseases.
Also in PLOS Genetics, Stanford University's Euan Ashley and his colleagues present a framework for identifying clinically important mutations from whole genome sequence data and for linking those mutations to potential therapies. The researchers developed an integrated pipeline dubbed Sequence To Medical Phenotypes that performs targeted genotyping of variants with known clinical associations, annotates the variants uncovered, and prioritizes them. By applying this platform to whole genome sequence data from twelve unrelated adults and a father-mother-child trio with ventricular arrhythmia, the researchers showed that it could find disease risk and drug response genotypes as well as uncover a novel candidate linked to congenital arrhythmia, ATP2B4.
Over in PLOS Computational Biology, a team of Israeli researchers report on a technique to detect horizontal gene transfer events that have occurred between closely related taxa. Their approach, called Near HGT, relies on both synteny index and constant relative mutability approaches to determine a confidence score indicating sequence divergence that could be due to gene transfer. The team applied this approach to a set of E. coli strains to find a number of genes likely to have undergone HGT. The team also says that their technique will have applications for molecular epidemiology, particularly for understanding drug resistance.