07 September 2012

New genes of predisposition to glaucoma

Singapore researchers have identified three new genetic variants associated with primary angle–closure glaucoma, a disease that affects 15 million people worldwide (80% of whom live in Asia) and is the leading cause of blindness in the Chinese.

Scientists from 32 (!) research institutions, led by Professor Tin Aung from Singapore, conducted a genome-wide associative DNA analysis of 1,854 patients with primary angle-closure glaucoma and 9,608 people in the control group. Samples for this were obtained from 5 libraries collected in Asia. After that, they conducted validation experiments using samples from other 1,917 patients with primary angle-closure glaucoma and 8,943 healthy people obtained from other six collections of samples collected around the world.

The result of the analysis was the identification of three previously unknown loci associated with a high risk of primary angle-closure glaucoma: the rs11024102 locus in the PLEKHA7 gene, rs3753841 in the COL11A1 gene and rs1015213 located between the PCMTD1 and ST18 genes on chromosome 8q.

The data obtained confirm the assumption made many years ago on the basis of clinical observations about the hereditary nature of the disease. The researchers believe that their discovery will expand the possibilities of early diagnosis and prevention of primary angle-closure glaucoma, as well as help to understand the mechanisms of pathogenesis of this disease.

Article by Vithana et al. Genome-wide association analyzes identify three new susceptibility loci for primary angle closure glaucoma published in the journal Nature Genetics.

Evgeniya Ryabtseva
Portal "Eternal youth" http://vechnayamolodost.ru Based on the materials of Agency for Science, Technology and Research: Singapore Scientists Find Genes Associated with Glaucoma, a Major Cause of Eye Blindness.

07.09.2012

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