基因变异,青光眼 z-bo 2020-09-16 395

　　Three independent reports published online in Nature Genetics revealed genetic mutations associated with glaucoma risk. This can provide better diagnostic tools and treatment options for the treatment of glaucoma. Glaucoma is an eye disease that gradually destroys mild sensory nerves and may cause permanent blindness. High intraocular pressure is a common cause of glaucoma, but people with normal intraocular pressure can also develop glaucoma.

　　In the first report, Yang Zhenglin and others found mutations in two genes ABCA1 and PMM2 in people in China and Singapore, but these two genes have nothing to do with the eyes of patients. High pressure or low pressure can cause glaucoma. Previous studies have not found that these two genes related to other eye diseases actually affect the cause of glaucoma. In the second report, Puya Gharahkhani and colleagues identified variants associated with three genes, including ABCA1, which is associated with glaucoma in Australians, Europeans and Americans. The third report was completed by Christopher Hammond and his colleagues. They combined genetic data from 18 populations, including mixed populations in Asia and Europe. Finally, we also confirmed that ABCA1 is a dangerous gene for hypertension and glaucoma. These two conditions are also related to two other gene mutations. ABCA1 is the main regulator of cellular cholesterol and lipid levels. Previous studies have shown that the expression of this gene in the blood of glaucoma patients is higher than normal, which may be a potential drug target.