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Open AccessA genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans
Trace elements are important for human health but may exert toxic or adverse effects. Mechanisms of uptake, distribution, metabolism, and excretion are partly under genetic control but have not yet been extens...
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Article
Open AccessIncorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction
Genetic variants can contribute differently to trait heritability by their functional categories, and recent studies have shown that incorporating functional annotation can improve the predictive performance o...
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Article
Open AccessCorrection: Develo** and validating a multivariable prediction model which predicts progression of intermediate to late age-related macular degeneration—the PINNACLE trial protocol
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Article
Open AccessDevelo** and validating a multivariable prediction model which predicts progression of intermediate to late age-related macular degeneration—the PINNACLE trial protocol
Age-related macular degeneration (AMD) is characterised by a progressive loss of central vision. Intermediate AMD is a risk factor for progression to advanced stages categorised as geographic atrophy (GA) and ...
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Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease
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Article
Open AccessGenome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT
Iron is essential for many biological processes, but iron levels must be tightly regulated to avoid harmful effects of both iron deficiency and overload. Here, we perform genome-wide association studies on fou...
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Open AccessAuthor Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer
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Article
Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease
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Article
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease
Late-onset Alzheimer’s disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer’s disease have be...
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Article
Open AccessLoss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without the...
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Article
Open AccessCommon variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic facto...
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Open AccessMEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk
A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enri...
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Open AccessGWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer
Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers...
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Article
Exploring and visualizing large-scale genetic associations by using PheWeb
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Article
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
With very large sample sizes, biobanks provide an exciting opportunity to identify genetic components of complex traits. To analyze rare variants, region-based multiple-variant aggregate tests are commonly use...
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Article
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified ...
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Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
In the version of this article initially published, in Supplementary Data 5, the logFC, FC, P value and adjusted P value for advanced AMD versus control (DE 4/1) without age correction did not correspond to the c...
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Article
Open AccessSex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis
Chronic kidney disease (CKD) is a growing health burden currently affecting 10–15% of adults worldwide. Estimated glomerular filtration rate (eGFR) as a marker of kidney function is commonly used to diagnose C...
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Article
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
Genome-wide association studies (GWAS) have identified genetic variants at 34 loci contributing to age-related macular degeneration (AMD)1–3. We generated transcriptional profiles of postmortem retinas from 453 c...
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Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene ...
