ORCID Profile
0000-0001-6421-2887
Current Organisation
Vanderbilt University Medical Center
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Publisher: Springer Science and Business Media LLC
Date: 22-05-2014
Publisher: Frontiers Media SA
Date: 05-08-2014
Publisher: Public Library of Science (PLoS)
Date: 12-12-2013
Publisher: Public Library of Science (PLoS)
Date: 16-02-2017
Publisher: American Association for the Advancement of Science (AAAS)
Date: 10-05-2017
DOI: 10.1126/SCITRANSLMED.AAI8708
Abstract: Numerous associations were discovered between human leukocyte antigen (HLA) variation and a comprehensive set of phenotypes derived from electronic health records.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 12-2016
DOI: 10.1161/CIRCGENETICS.116.001530
Abstract: Continued reductions in morbidity and mortality attributable to ischemic heart disease (IHD) require an understanding of the changing epidemiology of this disease. We hypothesized that we could use genetic correlations, which quantify the shared genetic architectures of phenotype pairs and extant risk factors from a historical prospective study to define the risk profile of a contemporary IHD phenotype. We used 37 phenotypes measured in the ARIC study (Atherosclerosis Risk in Communities n=7716, European ancestry subjects) and clinical diagnoses from an electronic health record (EHR) data set (n=19 093). All subjects had genome-wide single-nucleotide polymorphism genotyping. We measured pairwise genetic correlations (rG) between the ARIC and EHR phenotypes using linear mixed models. The genetic correlation estimates between the ARIC risk factors and the EHR IHD were modestly linearly correlated with hazards ratio estimates for incident IHD in ARIC (Pearson correlation [ r ]=0.62), indicating that the 2 IHD phenotypes had differing risk profiles. For comparison, this correlation was 0.80 when comparing EHR and ARIC type 2 diabetes mellitus phenotypes. The EHR IHD phenotype was most strongly correlated with ARIC metabolic phenotypes, including total:high-density lipoprotein cholesterol ratio (rG=−0.44, P =0.005), high-density lipoprotein (rG=−0.48, P =0.005), systolic blood pressure (rG=0.44, P =0.02), and triglycerides (rG=0.38, P =0.02). EHR phenotypes related to type 2 diabetes mellitus, atherosclerotic, and hypertensive diseases were also genetically correlated with these ARIC risk factors. The EHR IHD risk profile differed from ARIC and indicates that treatment and prevention efforts in this population should target hypertensive and metabolic disease.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 02-04-2013
DOI: 10.1161/CIRCULATIONAHA.112.000604
Abstract: ECG QRS duration, a measure of cardiac intraventricular conduction, varies ≈2-fold in in iduals without cardiac disease. Slow conduction may promote re-entrant arrhythmias. We performed a genome-wide association study to identify genomic markers of QRS duration in 5272 in iduals without cardiac disease selected from electronic medical record algorithms at 5 sites in the Electronic Medical Records and Genomics (eMERGE) network. The most significant loci were evaluated within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium QRS genome-wide association study meta-analysis. Twenty-three single-nucleotide polymorphisms in 5 loci, previously described by CHARGE, were replicated in the eMERGE s les 18 single-nucleotide polymorphisms were in the chromosome 3 SCN5A and SCN10A loci, where the most significant single-nucleotide polymorphisms were rs1805126 in SCN5A with P =1.2×10 −8 (eMERGE) and P =2.5×10 −20 (CHARGE) and rs6795970 in SCN10A with P =6×10 −6 (eMERGE) and P =5×10 −27 (CHARGE). The other loci were in NFIA , near CDKN1A , and near C6orf204. We then performed phenome-wide association studies on variants in these 5 loci in 13859 European Americans to search for diagnoses associated with these markers. Phenome-wide association study identified atrial fibrillation and cardiac arrhythmias as the most common associated diagnoses with SCN10A and SCN5A variants. SCN10A variants were also associated with subsequent development of atrial fibrillation and arrhythmia in the original 5272 “heart-healthy” study population. We conclude that DNA biobanks coupled to electronic medical records not only provide a platform for genome-wide association study but also may allow broad interrogation of the longitudinal incidence of disease associated with genetic variants. The phenome-wide association study approach implicated sodium channel variants modulating QRS duration in subjects without cardiac disease as predictors of subsequent arrhythmias.
Publisher: Springer Science and Business Media LLC
Date: 12-2013
DOI: 10.1038/NBT.2749
Location: United States of America
No related grants have been discovered for Jonathan Mosley.