31 Result(s)
within
Deborah J. Thompson
-
Article
Open AccessA saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...
-
Article
Open AccessGenome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenot...
-
Article
Genetic insights into biological mechanisms governing human ovarian ageing
Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 ...
-
Article
Open AccessMeta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with...
-
Article
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 ...
-
Article
Open AccessGenomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
The timing of puberty is highly variable and is associated with long-term health outcomes. To date, understanding of the genetic control of puberty timing is based largely on studies in women. Here, we report ...
-
Article
Using human genetics to understand the disease impacts of testosterone in men and women
Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown. To better understand this, we identified gen...
-
Article
Genetic predisposition to mosaic Y chromosome loss in blood
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1–5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational ...
-
Article
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
-
Article
Open AccessJoint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk
Mammographic breast density, adjusted for age and body mass index, and a polygenic risk score (PRS), comprised of common genetic variation, are both strong risk factors for breast cancer and increase discrimin...
-
Article
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 22...
-
Article
Open AccessIdentification of nine new susceptibility loci for endometrial cancer
Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci f...
-
Article
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in...
-
Article
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.
-
Article
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants fro...
-
Article
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
John Perry, Ken Ong and colleagues analyze genotype data on ∼370,000 women and identify 389 independent signals that associate with age at menarche, implicating ∼250 genes. Their analyses suggest causal invers...
-
Article
Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility
John Perry and colleagues identify genetic variants at 19 genomic regions associated with mosaic loss of the Y chromosome (mLOY) in blood. They further highlight a shared genetic architecture between mLOY and ...
-
Article
Rare and low-frequency coding variants alter human adult height
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding va...
-
Article
Five endometrial cancer risk loci identified through genome-wide association analysis
Amanda Spurdle, Ian Tomlinson, Douglas Easton and colleagues conduct a GWAS meta-analysis and identify five new risk loci for endometrial cancer. Functional studies show that one risk-associated SNP is located...
-
Article
Open AccessCorrection: Corrigendum: Rare coding variants and X-linked loci associated with age at menarche
Nature Communications 6, Article number: 7756 (2015); Published 4 August 2015; Updated 17 December 2015 In the Results section and in the legend of Table 1 of this Article, the company deCODE genetics, Inc. is...
