Glaucoma database

Abstract

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.

Availability: The database is available for free at http:bicmku.in:8081/glaucoma.

Keywords: Cytochrome P450 1 B chain (CYP1B1); Myocilin (MYOC) Single Nucleotide polymorphism (SNP); Optineurin (OPTN); Structured Query language (SQL); WD repeats 36 (WDR36).

Figure 1

The distribution of variants identified in gene. About 40% of disease causing variants were identified in CYP1B1, 18% of the variants were identified in OPTN and 10% of the variants were identified in WDR36 gene.

Figure 2

Screenshot of the main page of the website.