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Common sequence variants in the LOXL1 gene
What this study accomplished
This study pinned down the genetic variants that cause a particular type of glaucoma, called exfoliation glaucoma.
Why this study matters

Linked with advancing age, glaucoma is the second most common cause of irreversible blindness in the world, affecting about 10 to 20 percent of the general population over age 60. Exfoliation glaucoma, where abnormal deposits accumulate in the eye over time, is the most common type of secondary glaucoma in most populations (secondary glaucoma means it has a known cause).

In a bid to understand the genetic basis of this disease, an Icelandic team conducted a genome-wide association study using 195 cases and 14,474 population controls. They found variants that were strongly associated with this type of glaucoma in a second Scandinavian population they studied. About a quarter of the study population had two copies of the highest risk gene variant. Their risk of developing glaucoma was more than 100 times greater than those with low-risk gene variants, and about 2.47 times the population average.

More: To read an abstract of this paper on PubMed, a medical database, click here.