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.
Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals
They wanted to determine if there was an association with height, arterial stiffness, and bone fractures. They were able to determine at the end of the study that those with shorter statures were more likely to have arterial stiffness and hypertension.
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE.
High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation
The researchers sequenced ~1000 individuals mitochondrial RNA and a significant variation of sequences that show patterns of posttranscriptional modication. CARTaGENE samples were used to identify this information.
Prevalence, Awareness, and Management of CKD and Cardiovascular Risk Factors in Publicly Funded Health Care
The CARTaGENE study evaluated BP, lipid, and diabetes profiles as well as various treatments over 20,000 random individuals between ages 40-69. Many patiens were not aware of their health conditions or how best to achieve their targets to achieve better health. Study concluded that self-awareness is quite low.
Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
This study indicated that French populations contain a larger proportion of putatively damaging functional variants which could explain incidence of genetic disease in the province. There is a need for deep cataloguing of genetic variants by rescheduling worldwide human populations in order to truly assess disease risk.
Exploiting gene expression variation to capture gene-environment interactions for disease
The two researchers surveyed the current state of the concept of transcriptional gene-environment interactions and discuss its utility for mapping disease genotypes. The article noted human transcriptome is still fairly new in the literature and could have more information brought about it.