Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

P Surendran, F Drenos, R Young, H Warren, JP Cook… - Nature …, 2016 - nature.com
High blood pressure is a major risk factor for cardiovascular disease and premature death.
However, there is limited knowledge on specific causal genes and pathways. To better …

Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci

E Hannon, H Spiers, J Viana, R Pidsley, J Burrage… - Nature …, 2016 - nature.com
We characterized DNA methylation quantitative trait loci (mQTLs) in a large collection (n=
166) of human fetal brain samples spanning 56–166 d post-conception, identifying> 16,000 …

Survey of the heritability and sparse architecture of gene expression traits across human tissues

HE Wheeler, KP Shah, J Brenner, T Garcia… - PLoS …, 2016 - journals.plos.org
Understanding the genetic architecture of gene expression traits is key to elucidating the
underlying mechanisms of complex traits. Here, for the first time, we perform a systematic …

Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits

JMW Pavlides, Z Zhu, J Gratten, AF McRae, NR Wray… - Genome medicine, 2016 - Springer
Genome-wide association studies (GWAS) have identified hundreds of genetic variants
associated with complex traits and diseases. However, elucidating the causal genes …

The genetics of bone mass and susceptibility to bone diseases

D Karasik, F Rivadeneira, ML Johnson - Nature Reviews Rheumatology, 2016 - nature.com
Osteoporosis is characterized by low bone mass and an increased risk of fracture. Genetic
factors, environmental factors and gene–environment interactions all contribute to a person's …

Insight into genotype-phenotype associations through eQTL mapping in multiple cell types in health and immune-mediated disease

JE Peters, PA Lyons, JC Lee, AC Richard… - PLoS …, 2016 - journals.plos.org
Genome-wide association studies (GWAS) have transformed our understanding of the
genetics of complex traits such as autoimmune diseases, but how risk variants contribute to …

Integrative genomic deconvolution of rheumatoid arthritis GWAS loci into gene and cell type associations

AM Walsh, JW Whitaker, CC Huang, Y Cherkas… - Genome biology, 2016 - Springer
Background Although genome-wide association studies (GWAS) have identified over 100
genetic loci associated with rheumatoid arthritis (RA), our ability to translate these results …

MetaXcan: summary statistics based gene-level association method infers accurate PrediXcan results

A Barbeira, KP Shah, JM Torres, HE Wheeler… - BioRxiv, 2016 - biorxiv.org
To gain biological insight into the discoveries made by GWAS and meta-analysis studies,
effective integration of functional data generated by large-scale efforts such as the GTEx …

Local genetic effects on gene expression across 44 human tissues

F Aguet, AA Brown, SE Castel, JR Davis… - BioRxiv, 2016 - biorxiv.org
Expression quantitative trait locus (eQTL) mapping provides a powerful means to identify
functional variants influencing gene expression and disease pathogenesis. We report the …

The future is the past: methylation QTLs in schizophrenia

A Hoffmann, M Ziller, D Spengler - Genes, 2016 - mdpi.com
Genome-wide association studies (GWAS) have remarkably advanced insight into the
genetic basis of schizophrenia (SCZ). Still, most of the functional variance in disease risk …