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Open AccessAssessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data ...
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Open AccessMassively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma
Genome-wide association studies (GWAS) have identified ~20 melanoma susceptibility loci, most of which are not functionally characterized. Here we report an approach integrating massively-parallel reporter ass...
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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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Open AccessCorrection to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Following publication of the original article [1], the authors reported an error in Additional file 1.
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Open AccessGenome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure
The skin’s tendency to sunburn rather than tan is a major risk factor for skin cancer. Here we report a large genome-wide association study of ease of skin tanning in 176,678 subjects of European ancestry. We ...
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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse popu...
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Open AccessGain of power of the general regression model compared to Cochran-Armitage Trend tests: simulation study and application to bipolar disorder
Most genome-wide association studies assumed an additive model of inheritance which may result in significant loss of power when there is a strong departure from additivity. The General Regression Model (GRM),...
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Open AccessFunctional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
The functional impact of genetic variation has been extensively surveyed, revealing that genetic changes correlated to phenotypes lie mostly in non-coding genomic regions. Studies have linked allele-specific g...
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Open Access4th Pediatric Allergy and Asthma Meeting (PAAM)
WORKSHOP 4: Challenging clinical scenarios (CS01–CS06)
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Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Nature 480, 94–98 (2011); doi:10.1038/nature10539 In this Letter, one image was mistakenly duplicated during preparation of the artwork. In the original Fig. 3d, the left image illustrating migration of RCC4 c...
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Open AccessMeta-analysis identifies seven susceptibility loci involved in the atopic march
Eczema often precedes the development of asthma in a disease course called the ‘atopic march’. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-w...
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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
Matthew Law, Mark Iles and colleagues report the results of a large-scale genome-wide meta-analysis of cutaneous malignant melanoma. They confirm previously reported association signals and identify five new s...
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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Maria Teresa Landi and colleagues identify a rare missense variant in POT1 shared by five melanoma-prone families from Italy and associated with increased telomere length and telomere fragility. They also identif...
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Open AccessSelection of genes for gene-environment interaction studies: a candidate pathway-based strategy using asthma as an example
The identification of gene by environment (GxE) interactions has emerged as a challenging but essential task to fully understand the complex mechanism underlying multifactorial diseases. Until now, GxE interac...
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Open AccessTransient receptor potential genes, smoking, occupational exposures and cough in adults
Transient receptor potential (TRP) vanilloid and ankyrin cation channels are activated by various noxious chemicals and may play an important role in the pathogenesis of cough. The aim was to study the influen...
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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Two papers in this issue of Nature demonstrate that missense substitutions in the gene encoding for microphthalmia-associated transcription factor (MITF) are associated with susceptibility to melanoma and renal c...
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Genome-wide association study identifies three new melanoma susceptibility loci
Timothy Bishop and colleagues of the GenoMEL Consortium report a genome-wide association study for melanoma, identifying three new susceptibility loci.
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Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3
Stuart MacGregor and colleagues report the results of a genome-wide association study for melanoma susceptibility in an Australian population. They identify a new melanoma susceptibility locus on chromosome 1.
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Genetic and functional evaluation of MITF as a candidate gene for cutaneous melanoma predisposition in pigs
Cutaneous melanoma arises from transformed melanocytes and is caused mainly by environmental effects such as ultraviolet radiation and to a lesser extent by predisposing genetic variants. Only a few susceptibi...
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Genome-wide association study identifies three loci associated with melanoma risk
Timothy Bishop and colleagues from GenoMEL present a genome-wide association study for melanoma. They report three loci associated with susceptibility to melanoma, of which two were previously associated with ...
