Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin
This study is a meta-analysis of genome-wide association studies to understand the mechanisms that regulate urinary excretion of uromodulin. Researchers identified two novel significant loci, providing insight into uromodulin’s biology, keratins’ role in the kidney, and the UMOD-PDILT locus’s influence on kidney function.
Evaluation of Adiposity and Cognitive Function in Adults
Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Researchers sought to describe how new genes might be associated with ovarian cancer risk amongst 5,249 CARTaGENE participants. They found that a FANCI gene mutation is more common in familial ovarian cancer patients.
A large Canadian cohort provides insights into the genetic architecture of human hair colour
Researchers performed genome-wide association studies and meta-analyses to garner insight on regulatory mechanisms of hair colour variation and pigmentation biology. 12,996 genotyped CanPath participants were included in this study, along with their self-reported natural hair colour. The researchers fine-mapped significant loci throughout the genome, identifying multiple novel causal variants for hair colour.
The impact of reporting magnetic resonance imaging incidental findings in the Canadian alliance for healthy hearts and minds cohort
This study aimed to describe the management policy for incidental findings (IFs) for the Canadian Alliance for Healthy Hearts and Minds (CAHHM) cohort and understand IF disclosure effects for participants. IF management is challenging, though results are promising for the CAHHM’s policies since 97% of participants with an IF reported no change in their quality of life.
The association between mental health and shift work: Findings from the Atlantic PATH study
Researchers studied the relationship between mental health and shift work amongst 12,413 Atlantic PATH participants, including 4,155 shift workers and 8,258 non-shift workers. They found that shift workers were more likely to have increased rates of depression and poor self-rated health, as well as depressive and anxiety symptom scores compared to non-shift workers.
Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control
This study assessed whether cardiovascular and renal risk factors combined with the age of onset and duration of diabetes are sufficient predictors of type 2 diabetes. Of the 21,702 participants, 488 participants with type 2 diabetes originated from CanPath. The researchers developed a prediction model to help identify high-risk individuals who could benefit from therapies and treatments.
The association between mental health and shift work: Findings from the Atlantic PATH study
This study found that shift workers reported higher levels of anxiety, depression, and lower self-rated health than non-shift workers. Shift workers were more likely to report major depression and poor self-rated health, and female shift workers were more likely to report depressive symptoms and poor self-rated health.
Towards refining World Cancer Research Fund/American Institute for Cancer Research cancer prevention recommendations for red and processed meat intake: insights from Alberta’s Tomorrow Project cohort
This study examined the associations of processed meat derived from red versus non-red meats with cancer risk in the Alberta’s Tomorrow Project cohort of 26 218 adults who reported dietary intake using the Canadian Diet History Questionnaire. Incidence of cancer was obtained through data linkage with the Alberta Cancer Registry.
Normal sex and age-specific parameters in a multi-ethnic population: a cardiovascular magnetic resonance study of the Canadian Alliance for Healthy Hearts and Minds cohort
Researchers sought to create a robust, reference value set for cardiovascular magnetic resonance (CMR) parameters, and understand their relationship with age and sex in people without cardiovascular disease (CVD) history or risk factors. They were able to uncover a significant influence of sex and age on these parameters for use in clinical evaluations of CVD.