Genome-Wide Association Study of Keratoconus

Article: Genetic study uncovers hidden pieces of eye disease puzzle 
Source: University of Leeds, via ScienceDaily
Published: March 1, 2021

An international team of researchers from the UK, the US, the Czech Republic, the Netherlands, Australia, Austria and Singapore recently conducted a genome-wide association study of keratoconus. The observation that keratoconus is more common in people with an affected relative led scientists to consider a genetic link. The present study compared the full genome of 4,669 people with keratoconus to that of 116,547 people without keratoconus, a larger sample size than in previous studies for the condition in question. The team found an association between keratoconus and defects in corneal collagen matrix integrity. They also found possible abnormalities in the cell differentiation pathways of corneal cells in keratoconus. Though the sample population severely lacks ethnic diversity, a not uncommon situation, the data still contributes to collective knowledge overall. The researchers hope that the genetic information can help pinpoint a biological mechanism for the disease, in turn guiding early detection and intervention. Currently, the only treatment for keratoconus (short of corneal transplant) is corneal crosslinking. Genetics, and other methods for early detection, could help initiate therapy before the disease progresses to affect vision.

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