ArticlePloS one2011
Efficient replication of over 180 genetic associations with self-reported medical data.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
86 citing papers in PubMed, 6 syntheses or guidelines pooled it, 145 citations in OpenAlex.
- Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden.Blood advances · 2024Pooled it
- Expanded COVID-19 phenotype definitions reveal distinct patterns of genetic association and protective effects.Nature genetics · 2022Pooled it
- Genome-wide association studies of antidepressant class response and treatment-resistant depression.Translational psychiatry · 2020Pooled it
- Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.Nature genetics · 2019Pooled it
- Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition.Molecular psychiatry · 2018Pooled it
- The Gene Encoding Protocadherin 9 (PCDH9), a Novel Risk Factor for Major Depressive Disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2018Pooled it
- First-in-Human Study of 23ME-00610, an Antagonistic Antibody for Genetically Validated CD200R1 Immune Checkpoint, in Participants with Advanced Solid Malignancies.Cancer research communications · 2025Trial
- Public knowledge of and attitudes toward genetics and genetic testing.Genetic testing and molecular biomarkers · 2013Trial
- Large-scale analysis demonstrates the influence of CYP2C19 genotype on specific SSRI side effects.The pharmacogenomics journal · 2026Article
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Health actions after direct-to-consumer genetic testing for medically actionable conditions.Genetics in medicine open · 2026Article
- Decomposing genetic effects of social connectedness and depression on youth behaviors and long-term clinical outcomes.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Overview of Alzheimer's Disease Neuroimaging Initiative and future clinical trials.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.Brain : a journal of neurology · 2024Article
- Hemorrhoidal disease and its genetic association with depression, bipolar disorder, anxiety disorders, and schizophrenia: a bidirectional mendelian randomization study.Human genomics · 2024Article
- Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations.European urology open science · 2022Article
- Leveraging genetic discoveries for sleep to determine causal relationships with common complex traits.Sleep · 2022Review
- Genome-wide association study of musical beat synchronization demonstrates high polygenicity.Nature human behaviour · 2022Article
- Self-reporting of psychiatric illness in an online patient registry is a good indicator of the existence of psychiatric illness.Journal of psychiatric research · 2022Article
26 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
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence). Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations.
Indexed as
Identifiers
What OpenQuestion holds
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.