ArticleHuman genetics2009
Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis 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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Pooled genome-wide analysis to identify novel risk loci for pediatric allergic asthma.PloS one · 2011Pooled it
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- Chinese Society of Allergy and Chinese Society of Otorhinolaryngology-Head and Neck Surgery Guideline for Chronic Rhinosinusitis.Allergy, asthma & immunology research · 2020Review
- A genome-wide association study of essential hypertension in an Australian population using a DNA pooling approach.Molecular genetics and genomics : MGG · 2017Article
- Immunopathogenesis of Chronic Rhinosinusitis and Nasal Polyposis.Annual review of pathology · 2017Review
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- Genome-Wide Association Study of Acute Renal Graft Rejection.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2017Article
- Copy number variation analysis reveals additional variants contributing to endometriosis development.Journal of assisted reproduction and genetics · 2017Article
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- A role for auto-immunity in chronic rhinosinusitis? Lessons learned from sub-epidermal bullous disorders of the skin.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2016Review
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- Identification of Susceptibility Genes of Adult Asthma in French Canadian Women.Canadian respiratory journal · 2016Article
- Risk factors for chronic rhinosinusitis.Current opinion in allergy and clinical immunology · 2015Review
- Molecular mechanisms of nasal epithelium in rhinitis and rhinosinusitis.Current allergy and asthma reports · 2015Review
- Pathophysiology of chronic rhinosinusitis, pharmaceutical therapy options.GMS current topics in otorhinolaryngology, head and neck surgery · 2015Review
- Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal.PloS one · 2015Article
- ICON: chronic rhinosinusitis.The World Allergy Organization journal · 2014Article
- One airway: Biomarkers of protection from upper and lower airway injury after World Trade Center exposure.Respiratory medicine · 2014Article
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 7 institutions in 2 countries.
Funding
Abstract
The success of genome-wide association studies (GWAS) to identify risk loci of complex diseases is now well-established. One persistent major hurdle is the cost of those studies, which make them beyond the reach of most research groups. Performing GWAS on pools of DNA samples may be an effective strategy to reduce the costs of these studies. In this study, we performed pooling-based GWAS with more than 550,000 SNPs in two case-control cohorts consisting of patients with Type II diabetes (T2DM) and with chronic rhinosinusitis (CRS). In the T2DM study, the results of the pooling experiment were compared to individual genotypes obtained from a previously published GWAS. TCF7L2 and HHEX SNPs associated with T2DM by the traditional GWAS were among the top ranked SNPs in the pooling experiment. This dataset was also used to refine the best strategy to correctly identify SNPs that will remain significant based on individual genotyping. In the CRS study, the top hits from the pooling-based GWAS located within ten kilobases of known genes were validated by individual genotyping of 1,536 SNPs. Forty-one percent (598 out of the 1,457 SNPs that passed quality control) were associated with CRS at a nominal P value of 0.05, confirming the potential of pooling-based GWAS to identify SNPs that differ in allele frequencies between two groups of subjects. Overall, our results demonstrate that a pooling experiment on high-density genotyping arrays can accurately determine the minor allelic frequency as compared to individual genotyping and produce a list of top ranked SNPs that captures genuine allelic differences between a group of cases and controls. The low cost associated with a pooling-based GWAS clearly justifies its use in screening for genetic determinants of complex diseases.
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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.