全基因组关联研,青光眼 z-bo 2020-10-17 317

　　Researchers from Hudan University, University of Electronic Science and Technology of China, Singapore National Eye Center and other institutions have used genome-wide association studies (GWAS) to identify new susceptibility genes associated with primary open-angle glaucoma.

　　Professor Sun Xinghuai of Huanhuan University, Professor Yang Zhenglin of China Electronic Science and Technology University, and Sichuan Provincial People's Hospital are the co-authors of this article. Professor Sun Xinghuai's research direction is the diagnosis, treatment and research of glaucoma and optic nerve diseases. Professor Yang Chenlin is a well-known expert in the field of eye disease genetic research in China. Glaucoma is an eye disease in which intraocular pressure rises intermittently or continuously. Constantly high intraocular pressure can damage all parts of the eye and visual function. If left untreated, the visual field may disappear completely, and blindness may result. Glaucoma is the second most common cause of irreversible blindness in humans worldwide. It can be roughly divided into two types: open-angle glaucoma and closed-angle glaucoma. Acute angle-closure glaucoma is a painful ophthalmic emergency. It is a sudden increase in intraocular pressure, which usually directly impairs vision. In contrast, open-angle glaucoma is sometimes called a thief with silent vision due to its slow development.

　　Genome-Wide-WideAssociation Studies (GWAS) is a multi-center, large-sample sample, and iterative verification is performed at the entire genome level to conduct whole-genome research on a large number of DNA samples. Refers to the research that has been carried out related to genetic diseases, and input high-density genetic markers (SNP, CNV, etc.) to find ways to study the genetic factors related to complex diseases and the occurrence, onset and treatment of diseases. Fully reveal related genes. With the introduction of this research method, the prediction of the onset of genetic epidemics is not limited to the conventional analysis of "environmental" factors such as age and family history, but to the analysis of the entire human genome to find possible causes. Passed and completed. The combination of genetic and "environmental" factors of future diseases has led to the outbreak of various epidemics, including cancer.

　　In this new article, researchers conducted a primary open-angle glaucoma GWAS study in 1,007 patients and 1,009 control populations with high-pressure glaucoma (HPG) in southern China. They observed that multiple SNP associations near the ABCA1 gene at 9q31.1 reached significant levels throughout the genome, and some evidence suggests that they are also related to the PMM2 gene at 16p13.2. Got

　　Next, we checked the results of 525 HPG cases and 912 controls in Singapore, and the results of 1374 primary open-angle glaucoma cases and 4,053 controls in China. The researchers observed that the correlation between multiple SNPs at two sites reached a significant level in the entire genome. Both ABCA1 and PMM2 are expressed in the trabecular meshwork, optic nerve and other eye tissues. In addition, ABCA1 is also highly expressed in the retinal ganglion cell layer, which is consistent with its role in the formation of glaucoma. These findings provide a deeper understanding of the etiology of glaucoma, and provide a theoretical basis for early warning, early diagnosis, individualized prevention and treatment of high-risk glaucoma populations, and screening of new effective drugs. It provides the foundation and molecular targets. Not long ago, Professor Yang Zhenglin’s research team and Professor Yang Peizeng’s team from the First Affiliated Hospital of Chongqing Medical University identified a new risk site for Vogt-Koyanagi-Haradasyndrome (VKH) through GWAS. These findings provide some important new insights into the genetics and biology of VKH syndrome.