From genetic association to forensic prediction: Computational methods and tools for identifying phenotypically informative single nucleotide polymorphisms
The researchers assessed how pigmentation genetics can enhance forensic DNA phenotyping (FDP) for predicting externally visible characteristics (EVCs) such as hair, eye, and skin color. Using a genome-wide association study (GWAS) approach, they analyzed single nucleotide polymorphisms (SNPs) associated with pigmentation traits in data from CARTaGENE, Alberta’s Tomorrow Project, Ontario Health Study, BC Generations Project, and Atlantic PATH. Specifically, they examined genetic variants related to eye color in individuals with a blue eye color background (rs12913832:GG genotype). The study demonstrated how GWAS data, combined with post-genotyping analyses and functional annotation, can provide insights into pigmentation-associated loci. The findings contribute to refining FDP accuracy and may serve as a reference for future genomic investigations of EVCs in forensic settings.
Long-term exposure to air pollution and mortality in a prospective cohort: The Ontario Health Study
The researchers investigated the association between long-term exposure to air pollution and mortality using data from 88,615 participants in the Ontario Health Study from 2009 to 2017. They assessed exposure to fine particulate matter (PM2.5) and nitrogen dioxide (NO2) at participants’ residences and analyzed non-accidental, cardiovascular, and respiratory mortality risks using Cox proportional hazard models. Stronger associations were observed among physically active participants, smokers, and individuals with lower household income. These findings suggest that further improvements in air quality may reduce mortality risk, even in regions with low air pollution levels.
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer
Cette étude a examiné si le gène MRE11A comporte une véritable prédisposition au cancer héréditaire du sein et de l’ovaire (CHSO). Les analyses ont montré que la variante identifiée n’est pas liée à un risque accru de cancer du sein ou de l’ovaire, et semblent indiquer un manque d’utilité clinique des tests de MRE11A dans le CHSO, du moins dans les populations blanches/caucasiennes.