Identifying Rheumatoid Arthritis Cases within the Quebec Health Administrative Database
The team’s objective was to calculate rheumatoid arthritis point prevalence in the CARTaGENE cohort. They also aimed to estimate sensitivity/specificity. In the study, they were looking at 3 factors: number of years of billing data, addition of self reported information of RA diagnosis and drugs, and adjustment for calculation error. They found that there was a RAMQ sensitivity of 84% and specificity of 99.8%. Their results showed variations in the prevalence point estimates of the 3 factors being assessed.
Fracture status in middle-aged individuals with early CKD: cross-sectional analysis of the CARTaGENE survey
In this cross-sectional analysis, the study team determined that CKD was not correlated with increase fractures, was not a modification factor between calcaneal QUS and fracture, but modified the association between clinical, pharmacological parameters and fracture.
Nuclear genetic regulation of the human mitochondrial transcriptome
They analyzed more than 11000 RNA sequencing libraries across 36 tissue/cell types and they found considerable variation in mitochondrial gene expression along the transcriptome. This was also looked at tissues and inviduals and highlighted the importance of cell-type specific and post transcriptional processes in shaping mitochondrial-encoded RNA levels.
Harmonization of the Health and Risk Factor Questionnaire data of the Canadian Partnership for Tomorrow Project: a descriptive analysis
This paper describes how data is harmonized the health and risk factor questionnare and provides an overview of information required to use the core data that has been created. The reason for the harmonization is to have a unique data set including data on health and risk factors from over 307000 Canadians.
Green space associations with mental health and cognitive function
This study was done so that they could determine the relationship between mental health and access to green space. They enrolled 8144 people and used questionnares to measure any depression/anxiety. They found that while urban green space affords a lower depression score, it does not affect cognitive function.
Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria
The study team evaluated the impact of candidate variants in the main urate transporter genes, and also they examined the urumodulin/sodium excretion as mediators of the association between FEUA and uACR. Out of the 737 participants, 593 were observed in the final analysis. They found that there was an association between albuminuria with decreased renal urate excretion may be modified by the transporter SLC2A9.
Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing
They wanted to compare DNA methylation in subjects postivie/negative for anti-citrullinated protein antibodies which is a key marker for rheumatoid arthritis. They measured the DNA methylation of 137 subjects, 63 who were ACPA-positive, 66 were negative and 8 were self-reported with their rheumatoid arthritis.
Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.
The research team looked up 1) genetic and 2) epigenetic regulation via intergrational studies. The comprehensive sequencing of regulatory elements methylomes reveals lots of information of functional variants linked genetically as well as epigentically to plasma lipid traits.
Depressive symptoms and sleep problems as risk factors for heart disease: a prospective community study.
The goal of this study was to see if there was an association between depressive behavior, sleep problems and risk of developing heart disease in the sample population. Using CARTaGENE data, they were able to determine that depression and sleep disorders are independent factors of heart disease and area associated with a stronger risk of heart disease when occurring together.
Genetic and epidemiological characterization of restless legs syndrome in Québec
This study aimed to assess these RLS predisposing genetic variants, as well as investigate the epidemiological profile and diagnostic features of individuals with RLS in the Québec population, using an interviewer-administered questionnaire