Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors
Researchers created a technique to find and measure specific RNA cutting events among 799 CARTaGENE participants and samples from the GTEx project. They uncovered new sites where RNA is cut during mitochondrial processing and discovered genes linked to these processes, shedding light on how genetic variations might affect mitochondrial functions and health conditions.
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis
Researchers aimed to identify rare genetic variations associated with adolescent idiopathic scoliosis (AIS) by examining the DNA of 60 CARTaGENE participants (healthy controls) and individuals from other sources. They found that the FAT3 gene, while not statistically significant on its own, showed an excess of rare genetic changes in AIS patients, and further investigations revealed specific variants within FAT3 that were more common in severe AIS cases compared to milder cases and healthy individuals, suggesting that FAT3 may play a role in the development of AIS.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.
Arsenic Speciation and Metallomics Profiling of Human Toenails as a Biomarker to Assess Prostate Cancer Cases: Atlantic PATH Cohort Study
This study aimed to characterize arsenic species and metallome profiles in toenails and urine samples, compare these profiles between prostate cancer cases and controls, and evaluate the utility of toenail and urine biomarkers. Toenails were found to be viable biomarkers for altered arsenic speciation in prostate cancer cases.
Associations between neighbourhood street connectivity and sedentary behaviours in Canadian adults: Findings from Alberta’s Tomorrow Project
Researchers aimed to estimate associations between street connectivity, based on space syntax-derived street integration, and sedentary behaviours. Using data from 14,758 Alberta’s Tomorrow Project participants, they found that connectivity was positively related to various measures of sitting time and negatively associated with motor vehicle travel time.
Developing a Socioeconomic Status Index for Chronic Disease Prevention Research in Canada
Researchers developed a socioeconomic status (SES) index and assessed its associations with smoking amongst 17,371 Alberta’s Tomorrow Project participants. They found that their index was negatively related to smoking intensity.
Cross-sectional and longitudinal associations between the built environment and walking: effect modification by socioeconomic status
Using data from 703 Alberta’s Tomorrow Project participants, researchers found that changes to the built environment are not associated with changes in walking amongst adults after relocation. They also had weak findings that changes in walkability due to relocation may more strongly affect walking for adults with lower socioeconomic status.
Substituting bouts of sedentary behavior with physical activity: adopting positive lifestyle choices in people with a history of cancer
This study aimed to determine the association between substituting sitting time with other daily activities and changes in waist circumference amongst people with cancer history. The researchers found that small changes to minimize their sitting time help reduce waist circumference, possibly offsetting other adverse health outcomes.
Anti-Hyperglycemic Medication Adherence and Health Services Utilization in People with Diabetes: A Longitudinal Study of Alberta’s Tomorrow Project
This study aimed to describe how time-varying anti-hyperglycemic medication adherence relates to healthcare utilization for those with diabetes. Using data from Alberta’s Tomorrow Project participants, researchers found that poor drug adherence related to higher healthcare utilization in the short term but less over the long term.
Negative Association of Smoking History With Clinically Manifest Cardiac Sarcoidosis: A Case-Control Study
Researchers aimed to explore whether smoking was associated with a specific sarcoidosis phenotype, primarily in Caucasian patients with clinically manifest cardiac sarcoidosis (CS). Ontario Health Study participants’ data were used as controls, while the cases came from the Cardiac Sarcoidosis Multi-Center Prospective Cohort Study. They found a strong association between smoking history and clinically manifest CS, but more research is required to understand whether these associations have therapeutic potential.