Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.

PURPOSE The S1 RNA binding domain 1 (SRBD1) and elongation of long-chain fatty acids family member 5 (ELOVL5) have been reported to be susceptibility genes for early-onset normal-tension glaucoma (NTG). The present study we conducted to assess whether these genes were associated with primary open-angle glaucoma (POAG), including late-onset NTG and high-tension glaucoma (HTG). METHODS Three hundred seventy Japanese patients with POAG, including 158 NTG and 212 HTG patients and 191 control subjects were analyzed for SRBD1 (rs3213787) and ELOVL5 (rs735860) gene polymorphisms. RESULTS The A allele frequencies of rs3213787 were significantly higher in NTG (98.4%, P = 0.0003) and HTG (97.6%, P = 0.0013) patients than in the control subjects (92.7%). The A allele frequency was significantly higher (P = 0.014), even though the NTG patients were limited to those diagnosed at ages older than 60 years. The POAG patients with the CC or CT risk genotypes of rs735860 were significantly older (P = 0.032, analysis of variance, P = 0.043 and P = 0.015, respectively) than were the POAG patients with the TT genotype, and the frequency of a family history of glaucoma in POAG patients with the CC risk genotype was significantly higher (P = 0.015) than that in POAG patients with the TT genotype. CONCLUSIONS SRBD1 gene polymorphism is associated with the development of HTG as well as NTG, including late-onset NTG. Typical POAG associated with ELOVL5 gene polymorphism may have a late rather than an early onset.