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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 (pā€‰

Original publication

DOI

10.1007/s00438-020-01666-w

Type

Journal article

Journal

Mol Genet Genomics

Publication Date

07/2020

Volume

295

Pages

843 - 853

Keywords

Complex disease, Genetic interactions, Refractive error, UK Biobank, Adult, Aged, Biological Specimen Banks, Female, Genes, Dominant, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Laminin, Male, Middle Aged, Multifactorial Inheritance, Myopia, Polymorphism, Single Nucleotide, Quantitative Trait, Heritable, Refractive Errors