Impact of the X Chromosome and sex on regulatory variation
The research team analyzed blood transcriptomes of 922 individuals and they were able to conduct the first large-scale genome wide analysis of sex/genetic variation patterns. They generated chromatin and were able to develop genome-wide insight into how genetic variation shape human gene regulation and disease.
Central blood pressures in early chronic kidney disease: an analysis of CARTaGENE
The research question for this study was whether CKD is associated with high blood pressure. They found that early CKD is not associated with detrimental central hemodynamic parameters.
Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia
This study used encoding genetics to determine the relationship of schizophrenia
The mental health status of ethnocultural minorities in Ontario and their mental health care
The reason for this study was to compare the pyschosocial indicators and mental health service use among diverse populations in Ontario. There was a high level of pyschosocial distress in ethnic minorities in Ontario who are not accessing mental health services.
Depression and risk of type 2 diabetes: the potential role of metabolic factors
This study looked at the interaction between depressive symptoms and metabolic dysregulations as risk factors for type II diabetes. The study found depressive symptoms and disruptions in metabolic regulation can lead to risk of type two diabetes.
Using national dietary intake data to evaluate and adapt the US Diet History Questionnaire: the stepwise tailoring of an FFQ for Canadian use
The research team evaluated the Canadian Diet History Questionnaire and adapt the US list for Canada. 4533 food and recipes were grouped into 268 food group and were measured against the different surveys. C-DHQ I and II were designed to optimize the capture of foods consumed in Canadian populationsé
A Genome-Wide Association Study to Identify Potential Germline Copy Number Variants for Sporadic Breast Cancer Susceptibility
The study wanted to determine which CNVs (copy number variations) are assoicated with sporadic BC. They also wanted to 2 distinct CNV calling algorithms to identify false positives and finally the aim of the study is identify potential candidate CNVs for follow-up replication studies.
Heart rate dependent and independent effects of beta-blockers on central hemodynamic parameters: a propensity score analysis
In this article they looked the association between beta-blocker use, heart rate, and central hemodynamics in hypertensive CARTaGENE participants. They looked at 20004 people and determined that there were unfavourable central hemodynamic profile of beta-blocker has both HR-dependent and HR-indepdent components that are similar for all frequency used beta1 selective blocker.
Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.
This study observed excretion of uromodulin and variations in the UMOD gene. Those with higher levels of uromodulin also had higher levels of uric acid, sodium in their bodies
G1 Gene-environment-lifestyle factors in breast cancer susceptibility: machine learning tools to build predictive models
This study hoped to build predictive models for personalized breast screening. They were able to develop good predictive models for etiologies that would cause disease, and hope their model will aid in preventing breast cancer.