Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.

ABSTRACT:

Purpose

Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of the estimated 70% heritability is missing. Here, we investigate the contribution of rare genetic variation because this might explain more of the missing heritability in the more severe forms of myopia. In particular, high myopia can lead to blindness and has a tremendous impact on a patient and at the societal level. The exact molecular mechanisms behind this condition are not yet completely unraveled, but whole genome sequencing (WGS) studies have the potential to identify novel (rare) disease genes, explaining the high heritability.

Design

Cross-sectional study performed in the Netherlands.

P

SUBMITTER: Haarman AEG 

PROVIDER: S-EPMC10213105 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature