Researchers identify new gene loci linked to glaucoma
A large study of patients with primary open-angle glaucoma identified 44 new gene loci linked to glaucoma and confirmed 83 previously reported gene loci, which may improve diagnosis and treatment of glaucoma using genetic information.
Healio/OSN spoke with study co-author Janey L. Wiggs, MD, PhD, to discuss the results of the study and its clinical implications on potential glaucoma diagnosis and treatment.
Healio/OSN: What is the take-home message of the study?
Wiggs: There are two main take-home messages. One, genetically, primary open-angle glaucoma is very complex with now more than 100 genes contributing to the disease, and two, the effects of these genes are similar in people with different ethnicities. The overall genetic effect is generalized across ancestries.
Healio/OSN: What was unique about your study and the way it was conducted?
Wiggs: This is the largest genetic study for primary open-angle glaucoma and included a large number of individuals from three different ethnic groups: European Caucasians, East Asians and Africans.
Healio/OSN: What was surprising about your results?
Wiggs: Most surprising is that the genetic effects are generally similar across ancestries. Because the disease prevalence is higher in Africans, one might expect that the genetic effects would be different in Africans compared with the other ethnic groups, but in fact they were generally the same.
Healio/OSN: The researchers identified 44 new gene loci and confirmed 83 previously reported loci linked to glaucoma in 34,179 study participants with the disease. What is the hope that this identification may lead to?
Wiggs: The overall goal of this work is to improve diagnosis and treatment using information from genetics. For diagnosis, the goal is to develop polygenic risk scores, which have great promise to identify people at risk for disease before developing symptoms. Also, some of these genes could be targets for novel therapies.
Healio/OSN: This was also the first study to compare genes across various ancestry groups. What did the data show you?
Wiggs: The interesting observation that the genetic effects are generally the same across ancestry groups.
Healio/OSN: Is there anything else you think our readers should know?
Wiggs: This study is the result of a very large collaboration among investigators throughout the world. The study would not have been possible without the valued collaboration from our numerous colleagues who contributed to this study.