Analysis of UK Biobank data has provided evidence of dominance effects in human traits, revealing 183 gene loci associated with phenotypes that exhibit dominant and recessive patterns of inheritance, researchers report. In classical genetics, traits are generally divided into dominant and recessive, which result in all-or-none phenotypes and differ from additive, or dosage, effects of a genotype on a trait. While non-additive genetic dominance effects are often observed in plant and animal breeding and extensively studied for their effect on fitness of some model organisms, they are rarely recognized in humans outside of rare monogenic disorders with Mendelian inheritance patterns. To evaluate the role of dominance effects in human traits, Duncan Palmer and colleagues used data from the UK Biobank to systematically examine common genetic variation across 1,060 traits in a population of 361,194 individuals. Palmer et al. identified 183 phenotype-locus pairs that contained many well-known genotype-wide associations in traits that are not explained by a purely additive pattern of heritability. However, the authors note that more samples are likely needed to fully capture evidence of dominance effects for most traits.
Science
Analysis of genetic dominance in the UK Biobank
31-Mar-2023