Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Genetics of coronary artery disease: discovery, biology and clinical translation

AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …

[HTML][HTML] A global reference for human genetic variation

1000 Genomes Project Consortium - Nature, 2015 - ncbi.nlm.nih.gov
Abstract The 1000 Genomes Project set out to provide a comprehensive description of
common human genetic variation by applying whole-genome sequencing to a diverse set of …

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

LG Fritsche, W Igl, JNC Bailey, F Grassmann… - Nature …, 2016 - nature.com
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …

[HTML][HTML] Macrophages and lipid metabolism

A Remmerie, CL Scott - Cellular immunology, 2018 - Elsevier
Distinct macrophage populations throughout the body display highly heterogeneous
transcriptional and epigenetic programs. Recent research has highlighted that these profiles …

Epidemiology of age-related macular degeneration (AMD): associations with cardiovascular disease phenotypes and lipid factors

KL Pennington, MM DeAngelis - Eye and vision, 2016 - Springer
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in
adults over 50 years old. Genetic, epidemiological, and molecular studies are beginning to …

Exome-wide association study of plasma lipids in> 300,000 individuals

DJ Liu, GM Peloso, H Yu, AS Butterworth, X Wang… - Nature …, 2017 - nature.com
We screened variants on an exome-focused genotyping array in> 300,000 participants
(replication in> 280,000 participants) and identified 444 independent variants in 250 loci …

Risk factors and biomarkers of age-related macular degeneration

NG Lambert, H ElShelmani, MK Singh… - Progress in retinal and …, 2016 - Elsevier
A biomarker can be a substance or structure measured in body parts, fluids or products that
can affect or predict disease incidence. As age-related macular degeneration (AMD) is the …

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

K Kiryluk, Y Li, F Scolari, S Sanna-Cherchi, M Choi… - Nature …, 2014 - nature.com
We performed a genome-wide association study (GWAS) of IgA nephropathy (IgAN), the
most common form of glomerulonephritis, with discovery and follow-up in 20,612 individuals …

Soft drusen in age-related macular degeneration: biology and targeting via the oil spill strategies

CA Curcio - Investigative ophthalmology & visual science, 2018 - iovs.arvojournals.org
AMD is a major cause of legal blindness in older adults approachable through
multidisciplinary research involving human tissues and patients. AMD is a vascular …