ArticleNature protocols2011
Basic statistical analysis in genetic case-control studies.
Article in Nature protocols, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 210 papers, 11 of them syntheses that pooled it.
What it found
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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.
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Who cites it
210 citing papers in PubMed, 11 syntheses or guidelines pooled it.
- Association of vitamin D receptor genetic variants with therapeutic response in multidrug-resistant pulmonary tuberculosis: a systematic review.Frontiers in cellular and infection microbiology · 2026Pooled it
- A systematic review and meta-analysis of HLA class II associations in patients with IgG4 autoimmunity.Scientific reports · 2022Pooled it
- Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health.PloS one · 2022Pooled it
- A systematic review and meta-analysis of host genetic factors associated with influenza severity.BMC genomics · 2021Pooled it
- Susceptibility to leishmaniasis is affected by host SLC11A1 gene polymorphisms: a systematic review and meta-analysis.Parasitology research · 2019Pooled it
- The genetic underpinnings of callous-unemotional traits: A systematic research review.Neuroscience and biobehavioral reviews · 2019Pooled it
- Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.PloS one · 2017Pooled it
- Serum level and polymorphisms of retinol-binding protein-4 and risk for gestational diabetes mellitus: a meta-analysis.BMC pregnancy and childbirth · 2016Pooled it
- Pooled it
- Analysis and meta-analysis of five polymorphisms of the LINGO1 and LINGO2 genes in Parkinson's disease and multiple system atrophy in a Chinese population.Journal of neurology · 2015Pooled it
- Polymorphisms and plasma level of transforming growth factor-Beta 1 and risk for preeclampsia: a systematic review.PloS one · 2014Pooled it
- Genomic Investigation of Remission and Relapse of Psychotic Depression Treated with Sertraline plus Olanzapine: The STOP-PD II Study.Neuropsychobiology · 2023Trial
- Decreased plasma rifapentine concentrations associated with AADAC single nucleotide polymorphism in adults with tuberculosis.The Journal of antimicrobial chemotherapy · 2021Trial
- Trial
- Investigation of base excision repair gene variants in late-onset Alzheimer's disease.PloS one · 2019Trial
- EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients.Cancer epidemiology · 2018Trial
- Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228).British journal of cancer · 2017Trial
- Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.Biology of sex differences · 2026Article
- Article
- BCL11A and HBS1L-MYB polymorphisms, in association with hydroxyurea and sex, modulate fetal hemoglobin levels in individuals with sickle cell anemia in the western region of Bahia, Brazil.Molecular biology reports · 2026Article
150 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
This protocol describes how to perform basic statistical analysis in a population-based genetic association case-control study. The steps described involve the (i) appropriate selection of measures of association and relevance of disease models; (ii) appropriate selection of tests of association; (iii) visualization and interpretation of results; (iv) consideration of appropriate methods to control for multiple testing; and (v) replication strategies. Assuming no previous experience with software such as PLINK, R or Haploview, we describe how to use these popular tools for handling single-nucleotide polymorphism data in order to carry out tests of association and visualize and interpret results. This protocol assumes that data quality assessment and control has been performed, as described in a previous protocol, so that samples and markers deemed to have the potential to introduce bias to the study have been identified and removed. Study design, marker selection and quality control of case-control studies have also been discussed in earlier protocols. The protocol should take ~1 h to complete.
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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.