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
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.
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
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
In this study, they looked at mutations of MATR3 (gene that is associated with ALS). They assessed the frequency in French Canadian populations and had a control group. They were able to determine which proteins are associated with ALS.
Comparison of the Effect of Thiazide Diuretics and Other Antihypertensive Drugs on Central Blood Pressure: Cross‐Sectional Analysis Among Nondiabetic Patients
This study used CARTaGENE data to determine to assess the noninferority of TDs relative to different classes of antihypertensive medications in relation to central blood pressure. No major differences were noted and it was shown that TDs are at least as effective as other first line medications that are available.
Inherited chromosomally integrated human herpesvirus 6 as a predisposing risk factor for the development of angina pectoris
It was found that in a study of 20,000 people our results showed that the prevalence of angina was 3 times more in iciHHV-6+ people than those who did not have a copy of the virus. It also showed that iciHHV-6+ may contribute to the development of angina.
Recombination affects accumulation of damaging and disease-associated mutations in human populations
Using high-coverage sequencing data from over 1,400 individuals in the 1000 Genomes and CARTaGENE projects, we show that recombination rate modulates the distribution of putatively deleterious variants across the entire human genome.