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.
Leisure-Time Physical Activity Does not Attenuate the Association Between Occupational Sedentary Behavior and Obesity: Results From Alberta’s Tomorrow Project.
Using ATP data, this study determined that those in sedendary jobs are more at higher risk of obesity and was not attenuated by physical activity. Women did not show the same risk with sedendary behaviour.
The Sedentary Time and Activity Reporting Questionnaire (STAR-Q): reliability and validity against doubly labeled water and 7-day activity diaries.
The research team put together a STAR-Q to estimate past-month energy expenditure. They looked at 102 adults over a two week period. The STAR-Q demonstrated substantial validity for estimating occupational sedentary time and strenuous activity and fair validity for ranking individuals by AEE.
Conditions Associated with Circulating Tumor-Associated Folate Receptor 1 Protein in Healthy Men and Women
This article examined how FOLR1 protein could potentially be way to detect early cancer. The team used electrochemical luminescence immunoassay. The study concluded that they should use caution when saying that serum FOLR1 can detect early cancer as there has not been a study with enough evidence to truly determine that.
Geostatistical modelling of arsenic in drinking water wells and related toenail arsenic concentrations across Nova Scotia, Canada.
This paper looked at the spatial variation of toenail arsenic concentration, they found that because of geological and environmental contaminants in well water there are higher levels of arsenic concentraion in human bodies.
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.
What is the role of obesity in the aetiology of arsenic-related disease?
They took a large number of samples from people in Nova Scotia and determined that those who were obese had lower levels of arsenic concentrations in their bodies. The samples were taken from 960 people aged 35-60 between 2009-2010. Dietary patterns were also assessed along with drinking water.
Understanding the translation of scientific knowledge about arsenic risk exposure among private well water users in Nova Scotia
This article explored the knowledge of arsenic risk exposure among a well users in 5 areas of Nova Scotia assessed to be at risk of arsenic occurrence in groundwater. The risk ranged from low-high and was assessed over time. It was found that more women were at risk, where 71% of affected well-users were women. About 74% had a really good knowledge of the well water. A fair number of these people use their water as their drinking and 33% seemed confident the water was safe to drink.