ArticlePloS one2021
Recessive/dominant model: Alternative choice in case-control-based genome-wide association studies.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- Inflammasome Gene Polymorphisms (NLRP3 and NLRC4) and Vitamin D Status in Patients with Multiple Sclerosis.International journal of molecular sciences · 2026Article
- Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis.medRxiv : the preprint server for health sciences · 2026Article
- Functional significance of NLRP3 polymorphisms in mild cognitive impairment.BMC geriatrics · 2026Article
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- Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals.Nature communications · 2025Article
- New Evidence of TLR4 and TLR9 Variants Influencing Parasitaemia and Symptoms of Plasmodium vivax Infection.International journal of immunogenetics · 2025Article
- Genetic determinants and clinical significance of circulating and tumor-specific levels of insulin-like growth factor binding protein 7 (IGFBP7) in a Swedish breast cancer cohort.Carcinogenesis · 2025Article
- Genomic regions and candidate genes associated with forehead whorl positioning in Thoroughbred horses.Journal of equine science · 2025Article
- Genetic variations in extracellular matrix degradation pathways linking to major depressive disorder: Evidence from a large-scale genetic association study.BioMedicine · 2025Article
- Maternal genomic profile, gestational diabetes control, and Mediterranean diet to prevent low birth weight.iScience · 2024Article
- PAGER: A novel genotype encoding strategy for modeling deviations from additivity in complex trait association studies.BioData mining · 2024Article
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- Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs.PLoS genetics · 2024Article
- A common single nucleotide polymorphism is associated with inflammation and critical illness outcomes.iScience · 2023Article
- Next-Generation Sequencing Data-Based Association Testing of a Group of Genetic Markers for Complex Responses Using a Generalized Linear Model Framework.Mathematics (Basel, Switzerland) · 2023Article
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7 authors.
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No grant is acknowledged in the PubMed record.
Abstract
An additive genetic model is usually employed in case-control-based genome-wide association studies. The model usually encodes "AA", "Aa" and "aa" ("a" represents the minor allele) as three different numbers, implying the contribution of genotype "Aa" to the phenotype is different from "AA" and "aa". From the perspective of biological phenomena, the coding is reasonable since the phenotypes of lives are not "black and white". A case-control based study, however, has only two phenotypes, case and control, which means that the phenotypes are "black and white". It suggests that a recessive/dominant model may be an alternative to the additive model. In order to investigate whether the alternative is feasible, we conducted comparative experiments on several models used in those studies through chi-square test and logistic regression. Our simulation experiments demonstrate that a recessive model is better than the additive model. The area under the curve of the former has increased by 5% compared with the latter, the discrimination of identifying risk single nucleotide polymorphisms has been improved by 61%, and the precision has also reached 1.10 times that of the latter. Furthermore, the real data experiments show that the precision and area under the curve of the former are 16% and 20% higher than the latter respectively, and the area under the curve of dominant model of the former is 13% higher than the latter. The results indicate a recessive/dominant model may be an alternative to the additive model and suggest a new route for case-control-based studies.
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