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Sonia Shah
University of Queensland
Genome-wide association studySingle-nucleotide polymorphismGeneticsMedicineBiology
117Publications
38H-index
10.3kCitations
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Publications 118
Newest
#1Solal Chauquet (UQ: University of Queensland)
#2Michael O. Donovan (Cardiff University)H-Index: 128
Last. Sonia Shah (UQ: University of Queensland)H-Index: 38
view all 5 authors...
Aim: Use Mendelian randomisation (MR) analysis to investigate the potential effect of different antihypertensive drugs on schizophrenia, bipolar disorder and major depressive disorder. Methods: We conduct two sample MR using expression quantitative trait loci (eQTLs) for antihypertensive drug target genes as genetic instruments, together with summary data from published genome wide association studies, to investigate the causal effect of changes in drug target gene expression (as proxies of drug...
Source
#1Marc-André Legault (UdeM: Université de Montréal)H-Index: 6
#2J. Sandoval (MHI: Montreal Heart Institute)
Last. Jean-Claude Tardif (MHI: Montreal Heart Institute)H-Index: 86
view all 11 authors...
Background. Naturally occurring human genetic variants provide a valuable tool to identify drug targets and guide drug prioritization and clinical trial design. Ivabradine is a heart rate lowering drug with protective effects on heart failure despite increasing the risk of atrial fibrillation. In patients with coronary artery disease without heart failure, the drug does not protect against major cardiovascular adverse events prompting questions about the ability of genetics to have predicted tho...
Source
#1Sonia Shah (UCL: University College London)H-Index: 38
#2Albert Henry (UCL: University College London)H-Index: 1
Last. R. Thomas LumbersH-Index: 5
view all 146 authors...
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one o...
13 CitationsSource
#1Sonia ShahH-Index: 38
#2Albert HenryH-Index: 1
Last. Mark ChaffinH-Index: 17
view all 202 authors...
#1Sonia Shah (UCL: University College London)H-Index: 38
#2Albert Henry (UCL: University College London)
Last. R. Thomas Lumbers (UCL: University College London)H-Index: 5
view all 147 authors...
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report the largest GWAS meta-analysis of HF to-date, comprising 47,309 cases and 930,014 controls. We identify 12 independent associations with HF at 11 genomic loci, all of which demonstrate on...
1 CitationsSource
#1Allan F. McRae (UQ: University of Queensland)H-Index: 44
#2Riccardo E. Marioni (Edin.: University of Edinburgh)H-Index: 45
Last. Grant W. Montgomery (UQ: University of Queensland)H-Index: 123
view all 17 authors...
DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are not found in coding regions. We replicated 52,916 cis and 2,025 trans DNA methylation quantitative trait loci (mQTL) using methylation from whole blood measured on Illumina HumanMethylation450 arrays in the Brisbane Systems Genetics Study (n = 614 from 177 families) and the Lothian Birth C...
21 CitationsSource
#1Nora Franceschini (UNC: University of North Carolina at Chapel Hill)H-Index: 55
#2Claudia Giambartolomei (UCLA: University of California, Los Angeles)H-Index: 22
Last. Christopher J. O'Donnell (Harvard University)H-Index: 140
view all 158 authors...
Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Coloc...
8 CitationsSource
#1Chunyu Liu (BU: Boston University)H-Index: 54
#2Riccardo E. Marioni (Edin.: University of Edinburgh)H-Index: 45
Last. Douglas E. LevyH-Index: 199
view all 73 authors...
The lack of reliable measures of alcohol intake is a major obstacle to the diagnosis and treatment of alcohol-related diseases. Epigenetic modifications such as DNA methylation may provide novel biomarkers of alcohol use. To examine this possibility, we performed an epigenome-wide association study of methylation of cytosine-phosphate-guanine dinucleotide (CpG) sites in relation to alcohol intake in 13 population-based cohorts (n(total) = 13 317;54% women;mean age across cohorts 42-76 years) usi...
71 CitationsSource
#1Beben Benyamin (UQ: University of Queensland)H-Index: 28
#2Ji He (PKU: Peking University)H-Index: 8
Last. Dongsheng Fan (PKU: Peking University)H-Index: 16
view all 64 authors...
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,2...
18 CitationsSource
#2Federica BuonocoreH-Index: 7
Last. John C. AchermannH-Index: 49
view all 10 authors...
BACKGROUND: In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset of steroidogenesis and primordial germ cell development. However, relatively little is currently known about the genetic mechanisms underlying these processes. We therefore aimed to generate a detailed genomic atlas of adrenal and gonad development across these critical stages of human embryonic and fetal development. METHODS: R...
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