Gene sensitive to normal-tension glaucoma disease, and use thereof

Abstract

Disclosed is a gene sensitive to a normal-tension glaucoma disease. Also disclosed is a method for utilizing the gene. Comprehensive analysis / comparison was made on single nucleotide polymorphisms on the entire genome in many normal-tension glaucoma patients and many normal persons, and it is found that there is a difference in polymorphism sites found in ELOVL5-containing regions on human chromosome-6 and the like among the patients and the normal persons, wherein the polymorphism sites are represented by the international single nucleotide polymorphism numbers rs222450, rs9474394, rs2816344, rs2816341, rs2518579, rs2518578, rs9367511, rs6915699, rs6930045, rs9370188, rs9382180, rs9382181, rs4486010, rs2816379, rs6939730, rs2817088, rs2817090, rs2816372, rs2562895, rs2816364, rs2562893, rs2817101, rs2816362, rs2816356, rs10948744, rs12183976, rs2562898, rs735860, rs715441, rs2057024, rs1429146, rs9463895, rs2235723, rs1346603, rs9474476, rs2294867, rs9349660, rs974323, rs6909592, rs9367520, rs9395854, rs209485, rs9395856, rs7747926, rs7738788, rs209500, rs9357760, rs9370196, rs209512, rs209517, rs9370201, rs9367529, rs12209741, rs7744451, rs6904083, rs6904376, rs9367532, rs2067833, rs9382212, rs2139077, rs2397146, rs7742367, rs9474576, rs622447, rs3736729, rs13212365 and rs761141. It becomes possible to diagnose normal-tension glaucoma based on the difference in those polymorphism sites.

Description

Technical field [0001] The invention relates to a susceptibility gene for normal intraocular pressure glaucoma disease and its application. Background technique [0002] Glaucoma is a progressive, intractable disease that damages the optic nerve due to an increase in intraocular pressure above the healthy intraocular pressure capable of maintaining normal visual function. If the disease is allowed to continue to develop, the narrowing of the field of vision will continue to increase, sometimes leading to blindness. Although it currently ranks first among the causes of blindness in Japan, the cause is still unclear, and there is no accurate diagnosis or effective treatment. And prevention methods. The most common among Japanese is normal tension glaucoma (NTG) in which glaucoma still occurs even though the intraocular pressure is within the normal range, and the frequency of occurrence is about 4% among people over 40. Because the intraocular pressure of NTG is within the normal...

AI Technical Summary

Problems solved by technology

Concentrated efforts have been carried out on the analysis of myocilin (non-patent literature 1-15) and optineurin (non-patent literature 16-30), optic atrophy 1 (non-patent literature 31-41) genes that are highly suspected to be related to glaucoma, but NTG The correlation is not yet clear

In addition, analysis of candidate genes was performed, but only relevant implications were obtained

Images