ArticleMolecular genetics and genomics : MGG2020
Non-additive (dominance) effects of genetic variants associated with refractive error and myopia.
Article in Molecular genetics and genomics : MGG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Gene-Environment Interaction Loci Associated with Refractive Error: SCAMPI Analysis.Ophthalmology science · 2026Article
- A Multi-Tissue Transcriptomic Atlas of River Buffalo with a Focus on the Genetic Underpinnings of Lactation Performance Across Four Lactation Stages in the Mammary Gland.International journal of molecular sciences · 2026Article
- Dominance is common in mammals and is associated with trans-acting gene expression and alternative splicing.Genome biology · 2023Article
- Comparing myopic error in patients with basic and convergence insufficiency intermittent exotropia in China.BMC ophthalmology · 2023Article
- Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.PLoS genetics · 2022Article
- Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.Human molecular genetics · 2022Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- The Roles of Optogenetics and Technology in Neurobiology: A Review.Frontiers in aging neuroscience · 2022Review
- Changes in chromatin accessibility landscape and histone H3 core acetylation during valproic acid-induced differentiation of embryonic stem cells.Epigenetics & chromatin · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Genome-wide association studies (GWAS) have revealed that the genetic contribution to certain complex diseases is well-described by Fisher's infinitesimal model in which a vast number of polymorphisms each confer a small effect. Under Fisher's model, variants have additive effects both across loci and within loci. However, the latter assumption is at odds with the common observation of dominant or recessive rare alleles responsible for monogenic disorders. Here, we searched for evidence of non-additive (dominant or recessive) effects for GWAS variants known to confer susceptibility to the highly heritable quantitative trait, refractive error. Of 146 GWAS variants examined in a discovery sample of 228,423 individuals whose refractive error phenotype was inferred from their age-of-onset of spectacle wear, only 8 had even nominal evidence (p < 0.05) of non-additive effects. In a replication sample of 73,577 individuals who underwent direct assessment of refractive error, 1 of these 8 variants had robust independent evidence of non-additive effects (rs7829127 within ZMAT4, p = 4.76E-05) while a further 2 had suggestive evidence (rs35337422 in RD3L, p = 7.21E-03 and rs12193446 in LAMA2, p = 2.57E-02). Accounting for non-additive effects had minimal impact on the accuracy of a polygenic risk score for refractive error (R
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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 Socratic graph.