Genetic variants associated with corneal biomechanical properties and potentially conferring susceptibility to keratoconus in a genome-wide association study
JAMA Ophthalmology Jul 04, 2019
Khawaja AP, et al. - In this genome-wide association study involving 9029 unique participants, researchers identified genetic associations with corneal biomechanical properties and investigated whether these genetic variants were correlated with keratoconus, an important cause of visual loss in young adults. Among 6645 candidates in the discovery cohort, 7 genome-wide significant loci linked to corneal hysteresis (CH) or corneal resistance factor (CRF) were identified that were independently replicated. After meta-analysis, 2 further suggestive loci were identified. To date, five of the identified loci, at ANAPC1, ADAMTS8, ADAMTS17, ABCA6, and COL6A1, have not previously been recorded as related to corneal disease. According to results, 5 loci have been noted that are associated with biomechanical corneal characteristics and have suggestive connections with keratoconus. These outcomes propose the role of type VI collagen, extracellular matrix, and connective-tissue development for corneal biomechanics and keratoconus, as well as the role of CH and CRF as keratoconus biomarkers.
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