Relationship between drinking water and toenail arsenic concentrations among a cohort of Nova Scotians
They evaluated the relationship between arsenic concentrations in drinking water and toenail clippings among a cohort of Nova Scotians. A total of 960 men and women aged 35 to 69 years provided home drinking water and toenail clipping sample. They determined that those who were obese had lower concentrations of arsenic in their bodies than those in normal weight ranges.
Cognitive Testing of the STAR-Q: Insights in Activity and Sedentary Time Reporting
STAR-Q is essentially a questionnare that determines how to assess overall activity/sedendary behaviour. The reason for this study was that they wanted to see how active people are. Participants from the Alberta Tomorrow Project were used.
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.
Identification of a Breast Cancer Susceptibility Locus at 4q31.22 Using a Genome-Wide Association Study Paradigm
The study design also encompassed the 11 variants from GWASs previously reported by various consortia between the years 2007-2009 to (i) enable comparisons of effect sizes, and (ii) identify putative prognostic variants across studies. All SNP associations reported with breast cancer were also adjusted for body mass index (BMI). We report a strong association with 4q31.22-rs1429142 (combined per allele odds ratio and 95% confidence interval = 1.28 [1.17-1.41] and P combined = 1.5×10(-7)), when adjusted for BMI.
Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics
Over 20 000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Cogenital Multiple Intestinal Atresia is a fatal disorder that can cause organs to shutdown and obstructions in the small and large intestines. They looked a 5 different families to determine the gene structure and found that TTC7A is likely a causal gene for MIA.
Assessing SNP-SNP Interactions among DNA Repair, Modification and Metabolism Related Pathway Genes in Breast Cancer Susceptibility
Our results provide a framework for evaluating SNPs showing statistically weak but reproducible single-locus effects for epistatic effects contributing to disease susceptibility.
ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction
This study looked at ways of getting around the limits of self-declared ancestry, ancestry information markers, genomic control, structured association, and principal component analysis. They found ETHNOPRED to be a good alternative.
Breast cancer prediction using genome wide single nucleotide polymorphism data
These researchers studied 696 female participants and used an SNC model to determine whether a new subject would develop breast cancer or not.