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Open AccessGenome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth
A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65...
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Article
Open AccessEuropean and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date...
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Article
Open AccessComprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci
Hernias are characterized by protrusion of an organ or tissue through its surrounding cavity and often require surgical repair. In this study we identify 65,492 cases for five hernia types in the UK Biobank an...
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Article
Open AccessGenetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study
Spermine oxidase (SMOX) catalyzes the oxidation of spermine to spermidine. Observational studies have reported SMOX as a source of reactive oxygen species associated with cancer, implying that inhibition of SM...
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Article
Open AccessIntegrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis
Infantile hypertrophic pyloric stenosis (IHPS) is caused by hypertrophy of the pyloric sphincter muscle.
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Article
Open AccessGenetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that...
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Article
Open AccessGenetic variant effects on gene expression in human pancreatic islets and their implications for T2D
Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, key tissues and cell-types required for func...
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Article
Open AccessVariants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration
The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, ...
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Open AccessErratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Scientific Data 4:170179 doi: 10.1038/sdata.2017.179 (2017); Published 19 December 2017; Updated: 23 January 2018. In both the HTML and PDF versions of this Data Descriptor, the author name Jason Flannick was ...
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Article
Open AccessSequence data and association statistics from 12,940 type 2 diabetes cases and controls
To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequenc...
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Article
The genetic architecture of type 2 diabetes
The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies hav...
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Genetic fine map** and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine map** and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants i...
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Article
Open AccessAnalyses of pig genomes provide insight into porcine demography and evolution
For 10,000 years pigs and humans have shared a close and complex relationship. From domestication to modern breeding practices, humans have shaped the genomes of domestic pigs. Here we present the assembly and...
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Article
Open AccessGlobal assessment of genomic variation in cattle by genome resequencing and high-throughput genoty**
Integration of genomic variation with phenotypic information is an effective approach for uncovering genotype-phenotype associations. This requires an accurate identification of the different types of variatio...
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Article
Open AccessCopy number variation in the bovine genome
Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease. Notwi...
