J. Brent Richards
McGill University
Genome-wide association studyEndocrinologyGeneticsMedicineBiology
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Publications 156
#1Scott E. Youlten (Garvan Institute of Medical Research)H-Index: 4
#2John P. Kemp (UQ: University of Queensland)H-Index: 43
Last. Davide S. K. Komla-Ebri (Imperial College London)H-Index: 3
view all 36 authors...
Osteocytes are master regulators of the skeleton. We map the transcriptome of osteocytes at different skeletal sites, across age and sexes in mice to reveal genes and molecular programs that control this complex cell-network. We define an osteocyte transcriptome signature, 1239 genes that distinguishes osteocytes from other cells. 77% have no known role in the skeleton. We show they are enriched for genes controlling neuronal network formation, suggesting this program is important in the osteocy...
We aimed to increase our understanding of the genetic determinants of vitamin D levels by undertaking a large-scale genome-wide association study (GWAS) of serum 25 hydroxyvitamin D (25OHD). To do so, we used imputed genotypes from 401,460 white British UK Biobank participants with available 25OHD levels, retaining single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) > 0.1% and imputation quality score > 0.3. We performed a linear mixed model GWAS on standardized log-transfor...
#1Forgetta (McGill University)H-Index: 1
#1Vincenzo Forgetta (McGill University)H-Index: 17
Last. Struan F. A. GrantH-Index: 67
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Most replicated genetic determinants for type 1 diabetes are common (minor allele frequency [MAF] > 5%). We aimed to identify novel rare or low-frequency (MAF
#1Tianyuan Lu (McGill University)H-Index: 1
Last. J. Brent RichardsH-Index: 45
view all 8 authors...
BACKGROUND: Type 2 diabetes increases the risk of coronary heart disease (CHD), yet the mechanisms involved remain poorly described. Polygenic risk scores (PRS) provide an opportunity to understand risk factors since they reflect etiologic pathways from the entire genome. We therefore tested whether a PRS for CHD influenced risk of CHD in individuals with type 2 diabetes and which risk factors were associated with this PRS. METHODS: We tested the association of a CHD PRS with CHD and its traditi...
#1Ken-ichiro Tanaka (Shimane University)H-Index: 11
#2Ippei Kanazawa (Shimane University)H-Index: 25
Last. Toshitsugu Sugimoto (Shimane University)H-Index: 50
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Fam210a is a novel protein regulating muscle mass and strength in mice in vivo. However, detailed effects of Fam210a on the function of myoblasts as well as modulators of Fam210a are still unknown. We, thus, investigated (1) the roles of Fam210a in myoblast differentiation, proliferation, apoptosis and degradation, and (2) the factors that regulate Fam210a expression in murine C2C12 cells. We found that the level of Fam210a mRNA was reduced during myoblast differentiation. Reduction in endogenou...
#1Despoina Manousaki (McGill University)H-Index: 4
#2Anders Kämpe (KI: Karolinska Institutet)H-Index: 5
Last. J. Brent RichardsH-Index: 45
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Extreme presentations of common disease in children are often presumed to be of Mendelian etiology, but their polygenic basis has not been fully explored. We tested whether children with significant fracture history and no osteogenesis imperfecta (OI) are at increased polygenic risk for fracture. A childhood significant fracture history was defined as the presence of low-trauma vertebral fractures or multiple long bone fractures. We generated a polygenic score of heel ultrasound-derived speed of...
#1Julyan Keller-Baruch (McGill University)
#2Vincenzo Forgetta (JGH: Jewish General Hospital)H-Index: 17
Last. J. Brent Richards (McGill University)H-Index: 45
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Vascular endothelial growth factor (VEGF) is important for bone formation and has been associated with osteoporosis in humans. Therefore, we conducted a two-sample Mendelian randomization study to test whether genetically decreased circulating VEGF was associated with decreased bone mineral density (BMD) and increased risk of fracture. Summary statistics from a genomewide association study (GWAS) meta-analysis of circulating VEGF level (n = 16,112) were used to identify 10 genetic variants expla...
#1Wei-Yang BaiH-Index: 1
#2Xiao-Wei ZhuH-Index: 1
Last. Huisong ZhengH-Index: 25
view all 6 authors...
#1J. Brent Richards (McGill University)H-Index: 45
#2Douglas P. Kiel (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 98