ArticlePloS one2017
A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- SLCO1B3 and SLCO2B1 genotypes, androgen deprivation therapy, and prostate cancer outcomes: a prospective cohort study and meta-analysis.Carcinogenesis · 2024Pooled it
- Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.BMC medicine · 2023Pooled it
- Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.PLoS genetics · 2018Pooled it
- Trial
- Prospective study of reproductive span and menopausal hormone therapy and cognitive decline over 8 years in the Nurses' Health Study.Menopause (New York, N.Y.) · 2026Article
- Polygenic risk score and 20-year prostate cancer-specific mortality and survival.Communications medicine · 2026Article
- Exploratory Genome-Wide Association Study of Grapefruit Intake and Its Potential Link to Obesity Risk in US Cohorts.Nutrients · 2026Article
- Identifying Patients at Risk of Early Lethal Prostate Cancer by Integrating Family History, Polygenic Risk Score, Rare Variants in DNA Repair Genes, and Lifestyle Factors.European urology oncology · 2026Article
- Genome-wide association meta-analyses over one million individuals identify 54 loci associated with urinary incontinence and its subtypes.medRxiv : the preprint server for health sciences · 2026Article
- Circulating metabolites, genetics and lifestyle factors in relation to future risk of type 2 diabetes.Nature medicine · 2026Article
- Chronotype and Cardiovascular Disease Risk Factors among Middle-aged and Older Adults: An observational and Mendelian Randomization Study.medRxiv : the preprint server for health sciences · 2026Article
- Trans-ancestry GWAS of hot flashes reveals potent treatment target and overlap with psychiatric disorders.Communications medicine · 2026Article
- Investigating the relationship between breast cancer risk factors and an AI-generated mammographic texture feature in the Nurses' Health Study II.NPJ breast cancer · 2025Article
- Interplay of genetic predisposition, plasma metabolome and Mediterranean diet in dementia risk and cognitive function.Nature medicine · 2025Article
- Female Reproductive Factors in Relation to Risk of Exfoliation Glaucoma or Glaucoma Suspect.American journal of ophthalmology · 2025Observational
- Metabolomic Signatures and Predictive Utility ofMetabolites · 2025Article
- Is sex at birth a biological coin toss? Insights from a longitudinal and GWAS analysis.Science advances · 2025Article
- Pre-pregnancy inflammatory and insulinemic dietary patterns and risk of gestational diabetes mellitus: a prospective cohort study of 14,674 women.BMC medicine · 2025Article
- The Breast Tumor Immune Microenvironment of DNA Double-Strand Break Repair Pathogenic Variant Carriers Is Enriched with Tumor-Associated Macrophages.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- CHRNA5-A3-B4, CYP2A6, and DBH Genetic Associations With Smoking Cessation Throughout Adulthood Within Two Longitudinal Studies of Women.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2025Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors.
Funding
Abstract
The Nurses' Health Study (NHS), Nurses' Health Study II (NHSII), Health Professionals Follow Up Study (HPFS) and the Physicians Health Study (PHS) have collected detailed longitudinal data on multiple exposures and traits for approximately 310,000 study participants over the last 35 years. Over 160,000 study participants across the cohorts have donated a DNA sample and to date, 20,691 subjects have been genotyped as part of genome-wide association studies (GWAS) of twelve primary outcomes. However, these studies utilized six different GWAS arrays making it difficult to conduct analyses of secondary phenotypes or share controls across studies. To allow for secondary analyses of these data, we have created three new datasets merged by platform family and performed imputation using a common reference panel, the 1,000 Genomes Phase I release. Here, we describe the methodology behind the data merging and imputation and present imputation quality statistics and association results from two GWAS of secondary phenotypes (body mass index (BMI) and venous thromboembolism (VTE)). We observed the strongest BMI association for the FTO SNP rs55872725 (β = 0.45, p = 3.48x10-22), and using a significance level of p = 0.05, we replicated 19 out of 32 known BMI SNPs. For VTE, we observed the strongest association for the rs2040445 SNP (OR = 2.17, 95% CI: 1.79-2.63, p = 2.70x10-15), located downstream of F5 and also observed significant associations for the known ABO and F11 regions. This pooled resource can be used to maximize power in GWAS of phenotypes collected across the cohorts and for studying gene-environment interactions as well as rare phenotypes and genotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.