ReviewAmerican journal of human genetics2003
"Are we there yet?": Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits.
Review in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 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
49 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: A systematic review and meta-analysis.Frontiers in genetics · 2022Pooled it
- Association between HLA-DRB1 polymorphisms and pemphigus vulgaris: a meta-analysis.The British journal of dermatology · 2012Pooled it
- Albumin uptake and processing by the proximal tubule: physiological, pathological, and therapeutic implications.Physiological reviews · 2022Review
- Extensive intraspecies cryptic variation in an ancient embryonic gene regulatory network.eLife · 2019Article
- Large-scale survey to estimate the prevalence of disorders for 192 Kennel Club registered breeds.Canine genetics and epidemiology · 2017Article
- Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Frontiers in medicine · 2017Article
- Apolipoprotein E ε4 Allele was Associated With Nonlesional Mesial Temporal Lobe Epilepsy in Han Chinese Population.Medicine · 2016Observational
- Recent Advances and Emerging Applications in Text and Data Mining for Biomedical Discovery.Briefings in bioinformatics · 2016Review
- Bridging the gap between statistical and biological epistasis in Alzheimer's disease.BioMed research international · 2015Review
- Prevalence of disorders recorded in dogs attending primary-care veterinary practices in England.PloS one · 2014Article
- Comprehensive assessment and network analysis of the emerging genetic susceptibility landscape of prostate cancer.Cancer informatics · 2013Article
- The new world of clinical genomics.The Journal of clinical endocrinology and metabolism · 2012Article
- Characterizing differential individual response to porcine reproductive and respiratory syndrome virus infection through statistical and functional analysis of gene expression.Frontiers in genetics · 2012Article
- Article
- Causal models for investigating complex disease: I. A primer.Human heredity · 2011Article
- Accounting for population stratification in practice: a comparison of the main strategies dedicated to genome-wide association studies.PloS one · 2011Article
- Mycobacterium avium paratuberculosis and the etiology of Crohn's disease: a review of the controversy from the clinician's perspective.Canadian journal of gastroenterology = Journal canadien de gastroenterologie · 2010Review
- Interaction between dopamine D2 receptor genotype and parental rule-setting in adolescent alcohol use: evidence for a gene-parenting interaction.Molecular psychiatry · 2010Article
- Genetic origins of pediatric heart disease.Pediatric cardiology · 2010Review
- Epistasis and its implications for personal genetics.American journal of human genetics · 2009Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Although mathematical relationships can be proven by deductive logic, biological relationships can only be inferred from empirical observations. This is a distinct disadvantage for those of us who strive to identify the genes involved in complex diseases and quantitative traits. If causation cannot be proven, however, what does constitute sufficient evidence for causation? The philosopher Karl Popper said, "Our belief in a hypothesis can have no stronger basis than our repeated unsuccessful critical attempts to refute it." We believe that to establish causation, as scientists, we must make a serious attempt to refute our own hypotheses and to eliminate all known sources of bias before association becomes causation. In addition, we suggest that investigators must provide sufficient data and evidence of their unsuccessful efforts to find any confounding biases. In this editorial, we discuss what "causation" means in the context of complex diseases and quantitative traits, and we suggest guidelines for steps that may be taken to address possible confounders of association before polymorphisms may be called "causative."
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.