K Rangachari, M Dhivya, Pj Eswari Pandaranayaka, N Prasanthi, P Sundaresan, Sr Krishnadas, S Krishnaswamy
Bioinformation. 2011 Feb 7;5(9):398-9. doi: 10.6026/97320630005398.
Glaucoma, a complex heterogenous disease, is the leading cause for optic nerve-related blindness worldwide. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected. MYOC, OPTN, CYP1B1 and WDR36 are the important candidate genes. Nearly 4% of the glaucoma patients have mutation in any one of these genes. Mutation in any of these genes causes disease either directly or indirectly and the severity of the disease varies according to position of the genes. We have compiled all the related mutations and SNPs in the above genes and developed a database, to help access statistical and clinical information of particular mutation. This database is available online at http:bicmku.in:8081/glaucoma The database, constructed using SQL, contains data pertaining to the SNPs and mutation information involved in the above genes and relevant study data.
The database is available for free at http:bicmku.in:8081/glaucoma.
青光眼是一种复杂的异质性疾病，是全球视神经相关失明的主要原因。原发性开角型青光眼（POAG）是最常见的类型，据估计到2020年约有6000万人将受其影响。MYOC、OPTN、CYP1B1和WDR36是重要的候选基因。近4%的青光眼患者在这些基因中的任何一个存在突变。这些基因中的任何一个发生突变都会直接或间接导致疾病，且疾病的严重程度因基因位置而异。我们汇总了上述基因的所有相关突变和单核苷酸多态性（SNP）并开发了一个数据库，以帮助获取特定突变的统计和临床信息。该数据库可在http://bicmku.in:8081/glaucoma在线获取。该数据库使用SQL构建，包含与上述基因中涉及的SNP和突变信息以及相关研究数据有关的数据。
