Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature
The CARTaGENE cohort looked 168 inviduals with SS, and found 95% were of European Ancestry. These data suggest that the variants identified are potentially genetic markers specifically associated with the ISS phenotype.
Allele-specific expression reveals interactions between genetic variation and environment
Combining whole-blood RNA-seq with extensive environmental annotations collected from 922 human individuals, we identified 35 GxE interactions, compared with only four using standard GxE interaction testing. EAGLE provides new opportunities for researchers to identify GxE interactions using functional genomic data.
Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies
They assessed the relationships between PM25, SO2, and ACPA which is a marker for RA, they found there was a positive association between ACPA and industrial PM2.5/SO2 emissions. Finally there was a correlation between air pollution from industrial emissions and ACPA suggests a role for these exposures in RA.
Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer
There is a condition that affects 1% of the population where iciHHV-6 and they wanted to do know if such a mutation predisposes a person to cancer development. They found there was no statistically significant association between HHV-6 and breast cancer in women.
Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada)
The main objective of this study was to reconstruct, analyse, and compare ascending genologies of participants to CARTaGENE. They found 5110 genealogies were from four Quebec regions were constructed. They were able to find ancestry going back to the 17th century.
Community Engagement in Genetic Research: Results of the First Public Consultation for the Quebec CARTaGENE Project
This article showed how beneficial CARTaGENE’s data would be, but with the caveat that the confidentiality of the participants must be acknowledged and taken into account.
A haplotype-based normalization technique for the analysis and detection of allele specific expression
The research team examined allele specific expression which can be an identifier for disease loci. They were able to sequence exomes from CARTaGENE cohort and find a significant association between the proportion of sites undergoing ASE within the genome and smoking.
Prediabetes, depressive and anxiety symptoms, and risk of type 2 diabetes: A community-based cohort study
This study looked at the effect of prediabetes/depression on a diabetes risk. It seemed that prediabetes/depression interacted and resulted in a diabetes increase. Depression has doubled the risk of prediabetes progressing into full on diabetes. Anxiety has also heightned the risk of prediabetes turning into diabetes.
Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study
Canadian Alliance for Healthy Hearts and Minds (CAHHM) is a pan-Canadian, prospective, multi-ethnic cohort study being conducted in Canada. This project has sed CPTP data to help and assist it. CAHHM is a prospective cohort study which aims to examine the health of adults living in Canada.
Dietary assessment is a critical element of health research – Perspective from the Partnership for Advancing Nutritional and Dietary Assessment in Canada
This was an opinion based paper which argued that while assessing dietary intakes is difficult, it`s not impossible. They believe that building capacity and funding opportunities should be readily available in order to build research. If they were to have these, there would be better understanding in Canada and elsewhere.