Association analyses of rare variants identify two genes associated with refractive error.
Karina PatasovaAnnechien E G HaarmanAnthony M MusolfOmar A MahrooJugnoo Sangeeta RahiMario FalchiVirginie J M VerhoevenRichard K WilsonCaroline C W KlaverPriya DuggalAlison KleinJeremy A GuggenheimChristopher J HammondPirro G Hysinull nullPublished in: PloS one (2022)
The results of our study support previous research highlighting the importance of rare variants to the genetic risk of refractive error. We explain some of the origins of the genetic signals seen in GWAS but also report for the first time a completely novel association with the CRX gene.