The Role of the Myocilin, Optineurin and Apolipoprotein E genes in Primary Open Angle Glaucoma

Abstract

Abstract: : Purpose: To investigate the distribution of single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), optineurin (OPTN) and apolipoprotein E (APOE) in the Chinese population and explore the role of these genes in the susceptibility of primary open–angle glaucoma (POAG). Methods: A multi–gene association study was performed among 200 sporadic patients with POAG and 201 unrelated control subjects. Multivariable logistic regression analysis was used to search for significant SNPs and their interactions both in single gene and in multiple genes. Results: Disease–causing mutations (DCMs) identified in the MYOC gene were R91X, C245Y, E300K and Y471C, accounting for 2% of POAG patients. DCMs identified in the OPTN gene were E103D and H486R, accounting for 1% of POAG patients. In OPTN, IVS6–5T>C and IVS6–10G>A were negatively related to the susceptibility of POAG (P = 0.004 and 0.030 respectively). In the APOE gene, –491A>T, –219T>G and ε2/ε3/ε4 were also associated with the susceptibility of POAG (P = 0.016, 0.0004, 0.033, respectively). However, no interaction was identified among the MYOC, OPTN and APOE gene (P > 0.59). Conclusions: MYOC, OPTN, and APOE were separately but not interactively associated with POAG, in which genetic nature is more likely to be monogenic other than digenic or polygenic.

Keywords: genetics • gene screening • visual impairment: neuro–ophthalmological disease