A group of Professor Toru Nakazawa, Associate Professor Koji Nishiguchi, and Dr. Yukihiro Shiga in the Department of Ophthalmology, Graduate School of Medicine, Tohoku University, clarified the relationship between genetic factors and clinical features in glaucoma patients.
Glaucoma is an eye disease that narrows the visual field due to damage to the optic nerve, and is the leading cause of blindness in Japan.Although it is not clear how glaucoma develops, genetic factors are cited as one of the risk factors.However, most of the genetic factors in Japanese glaucoma patients have not been elucidated.
In order to investigate the genetic factors of glaucoma patients, this research group used "Japonica Array", a Japanese genetic analysis tool created based on the results of the Tohoku Medical Megabank Organization, with 565 glaucoma patients and 1,104. The genetic information of healthy humans was analyzed.As a result, a strong correlation was found in Japanese glaucoma patients with respect to the three gene regions reported to be associated with glaucoma in Europe and the United States.Therefore, as a result of newly analyzing 3 glaucoma patients and 607 healthy subjects, it was possible to reconfirm that these three gene regions are involved in glaucoma.
In addition, it was revealed that these three gene regions are associated with different clinical features. There was a correlation between intraocular pressure and blood flow in the first gene region, thickness and blood flow of the retinal nerve fiber layer in the second gene region, and optic disc shape and visual field in the third gene region. ..
It is expected that this result will help elucidate the pathophysiology of glaucoma and personalized medicine in the future.
Paper information:[PLOS ONE] Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7
