ReviewClinical genetics2011
Evolutionary evidence of the effect of rare variants on disease etiology.
Review in Clinical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis 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
60 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A novel TP53 variant (rs78378222 A > C) in the polyadenylation signal is associated with increased cancer susceptibility: evidence from a meta-analysis.Oncotarget · 2016Pooled it
- Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.PloS one · 2013Trial
- High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Article
- Rare and common variants in ERAP1 and ERAP2 selected for in response to Yersinia pestis infection contribute to autoimmune disease including inflammatory bowel disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.PLoS genetics · 2025Article
- A scalable framework for identifying allelic series from summary statistics.American journal of human genetics · 2025Article
- Profiling crRNA architectures for enhanced Cas12 biosensing.Communications biology · 2025Article
- iPSCs and iPSC-derived cells as a model of human genetic and epigenetic variation.Nature communications · 2025Article
- Five novelFrontiers in genetics · 2025Article
- Relation Between Obesity and Type 2 Diabetes: Evolutionary Insights, Perspectives and Controversies.Current obesity reports · 2024Review
- Novel mutation leading to splice donor loss in a conserved site ofJournal of medical genetics · 2024Article
- Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.Genetics and molecular biology · 2024Article
- Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda.PLoS neglected tropical diseases · 2023Article
- How to estimate heritability: a guide for genetic epidemiologists.International journal of epidemiology · 2023Article
- 10 Years of GWAS in intraocular pressure.Frontiers in genetics · 2023Review
- Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity.Frontiers in cellular and infection microbiology · 2022Article
- Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.Frontiers in genetics · 2022Article
- Rare deleterious germline variants and risk of lung cancer.NPJ precision oncology · 2021Article
- Rare variant association testing in the non-coding genome.Human genetics · 2020Review
- Article
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
The common disease/common variant hypothesis has been popular for describing the genetic architecture of common human diseases for several years. According to the originally stated hypothesis, one or a few common genetic variants with a large effect size control the risk of common diseases. A growing body of evidence, however, suggests that rare single-nucleotide polymorphisms (SNPs), i.e. those with a minor allele frequency of less than 5%, are also an important component of the genetic architecture of common human diseases. In this study, we analyzed the relevance of rare SNPs to the risk of common diseases from an evolutionary perspective and found that rare SNPs are more likely than common SNPs to be functional and tend to have a stronger effect size than do common SNPs. This observation, and the fact that most of the SNPs in the human genome are rare, suggests that rare SNPs are a crucial element of the genetic architecture of common human diseases. We propose that the next generation of genomic studies should focus on analyzing rare SNPs. Further, targeting patients with a family history of the disease, an extreme phenotype, or early disease onset may facilitate the detection of risk-associated rare SNPs.
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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.