A joint research group of RIKEN and Tohoku University School of Medicine conducted the largest genome-wide association study (GWAS) in Asia for open-angle glaucoma, which is the main cause of blindness in Japanese, and is susceptible to the onset at seven locations. The gene region was identified.
Glaucoma is an eye disease that damages the optic nerve and is the leading cause of blindness in Japan.The prevalence of glaucoma in Japanese over 40 years of age is 5.0%, and the main type of glaucoma is open-angle glaucoma, but most of the genetic factors of the patients have not been elucidated.
Therefore, in order to clarify the genetic factors involved in the onset, the joint group targeted 3,980 Japanese patients and 18,815 control groups, and SNP (single nucleotide polymorphism: a phenomenon in which one base on genomic DNA is different. Individuals. GWAS was performed for (which is a factor that makes a difference).
As a result, it was clarified that seven genetic regions affect the onset of open-angle glaucoma.It was also shown that, of the seven genetic regions, not only Japanese, but two SNPs affect the onset in non-Japanese Asian races and four SNPs in European races. ..Furthermore, it is clear that the genes involved in the epidermal growth factor receptor signal are involved in the onset, and that people who are naturally prone to open-angle glaucoma are predisposed to type 7 diabetes and cardiovascular disease. Became.
In this study, the gene region related to patients with open-angle glaucoma has been clarified, and it is expected that it will contribute to the elucidation of the etiology of glaucoma, the development of therapeutic methods, and preventive medicine research in the future.
Paper information:[Human Molecular Genetics] Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma
