The OPA1 Gene Polymorphim i Aociated With Normal Tenion and High Tenion Glaucoma Original Reearch Article

Purpoe To ae whether genetic polymorphim of optic atrophy 1 (OPA1) are aociated with primary open-angle glaucoma (POAG). Deign Propective cae control aociation tudy. Method Japanee patient with normal tenion glaucoma (NTG, n = 194), and high tenion glaucoma (HTG, n = 191), and 185 control ubject were analyzed for the OPA1 intervening equence (IV) 8+4 cytoine thymine (C/T) and IV 8+32 thymine cytoine (T/C) polymorphim uing pyroequencing technique. Reult There wa a ignificant difference in the OPA1 IV 8 +32 T/C genotype frequencie between the NTG patient and control ubject (P = .0074), and the frequency of the cytoine (C) allele wa ignificantly higher in the NTG patient compared with the control ubject (19.3% v 11.6%, P = .0036). Adjuted for age, gender, refractive error, and intraocular preure, an almot two-fold increaed rik of NTG (P = .004, odd ratio 2.27, 95% confidence interval 1.30 to 3.97) wa found with the OPA1 IV 8 +32 C allele. Although there wa no ignificant difference in the OPA1 IV 8 +32 T/C genotype frequencie between the HTG patient and control ubject (P = .24), the age at the time of diagnoi (53 ± 11.0 year, median value ± median abolute deviation) in the HTG patient with the OPA1 IV 8 +32 C allele wa ignificantly younger than that (57 ± 12.0 year) in the HTG patient without C allele (P = .048). Concluion The OPA1 IV 8 +32 T/C polymorphim i aociated with NTG, and may be ued a a marker for thi dieae aociation. Thi polymorphim alo influence the phenotypic feature in patient with HTG and hould be conidered to be a genetic rik factor not only for NTG, but alo for HTG.