A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French–Canadian Population
They wanted to see if there was an association between LBX1 polymorphisms and adolescent scoliosis. They looked at 1568 participants and did the appropiate genotyping on them. They concluded that they replicated the association of LBX1 locus with AIS in the french canadian population.
Relaxed Selection During a Recent Human Expansion
They assessed genealogies of French Canadians going back to the 17th century (over 4000 ascending geneaologies). With comparison of exomic diversity it revealed: i) both new and low-frequency variants are signficantly more deletrious mutations are at higher frequencies in front individuals, ii)equally deleterious mutations are at higher mutations in front individuals, iii) front individuals are two times more likely to be homozygous for rare very deletrious mutations ins europeans.
Polygenic risk scores distinguish patients from non‐affected adult relatives and from normal controls in schizophrenia and bipolar disorder multi‐affected kindreds
This study confirmed the usefulness of PRS in capturing the contribution of common genetic variants to the risk of SZ and BD in densely affected families.
Atopic dermatitis and risk of hypertension, type 2 diabetes, myocardial infarction and stroke in a cross‐sectional analysis from the Canadian Partnership for Tomorrow Project
This study wanted to determine if there was an association with atopic dermatitis and hypertension/heart attack/stroke/type II diabetes. It was found in a cross-sectional study that AD is not really a major risk factor for cardiovascular disease.
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature
The CARTaGENE cohort looked 168 inviduals with SS, and found 95% were of European Ancestry. These data suggest that the variants identified are potentially genetic markers specifically associated with the ISS phenotype.
Allele-specific expression reveals interactions between genetic variation and environment
Combining whole-blood RNA-seq with extensive environmental annotations collected from 922 human individuals, we identified 35 GxE interactions, compared with only four using standard GxE interaction testing. EAGLE provides new opportunities for researchers to identify GxE interactions using functional genomic data.
Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies
They assessed the relationships between PM25, SO2, and ACPA which is a marker for RA, they found there was a positive association between ACPA and industrial PM2.5/SO2 emissions. Finally there was a correlation between air pollution from industrial emissions and ACPA suggests a role for these exposures in RA.
Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer
There is a condition that affects 1% of the population where iciHHV-6 and they wanted to do know if such a mutation predisposes a person to cancer development. They found there was no statistically significant association between HHV-6 and breast cancer in women.
Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada)
The main objective of this study was to reconstruct, analyse, and compare ascending genologies of participants to CARTaGENE. They found 5110 genealogies were from four Quebec regions were constructed. They were able to find ancestry going back to the 17th century.
Community Engagement in Genetic Research: Results of the First Public Consultation for the Quebec CARTaGENE Project
This article showed how beneficial CARTaGENE’s data would be, but with the caveat that the confidentiality of the participants must be acknowledged and taken into account.