Monday 20 October 2014

New insight into glaucoma genetics

Researchers have uncovered four new genes linked with glaucoma, which suggest the involvement of lipid metabolism and corneal thickness in the development of the disease. The findings could be used to help identify those at risk of developing the condition.
By analysing differences between people’s genomes, an international group of researchers has uncovered four additional genes linked with glaucoma, variations in which may make an individual more likely to develop the condition.
The research, published in the journal Nature Genetics, looked at almost 36,000 people to find genetic markers related to intraocular pressure (IOP). One of genes discovered to be associated with IOP was ABCA1, which plays a role in maintaining cell membranes by regulating lipid and cholesterol metabolism. This, say the researchers, points to the metabolism of lipids as a key pathway in the development and progression of the disease.
Ananth Viswanathan, a consultant at Moorfields Eye Hospital and joint director of the research group, said: “The discoveries are significant because they improve our understanding of the risk of this serious disease and may lead to better treatments.”
Mr Viswanathan explained: “We found that variants in the FNDC3B gene, which we know is associated with corneal thickness, are involved in the determination of IOP even when the biasing effect of corneal thickness is taken into account.”
The studies come from 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), which includes groups from the EU, US, Australia and Asia.
Mr Viswanathan added: “By taking this ‘big data’ approach, we have found out more about the biology of the disease, new genomic areas and have been able to confirm the findings in different parts of the globe.”

original article

1 comment:

  1. I found this post to be incredibly inspiring. Your personal anecdotes and insights made it relatable and engaging. Looking forward to reading more from you!