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The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma.
Am J Ophthalmol. 2007 Jan; 143(1):125-130.AJ

Abstract

PURPOSE

To assess whether genetic polymorphisms of optic atrophy 1 (OPA1) are associated with primary open-angle glaucoma (POAG).

DESIGN

Prospective case control association study.

METHODS

Japanese patients with normal tension glaucoma (NTG, n = 194), and high tension glaucoma (HTG, n = 191), and 185 control subjects were analyzed for the OPA1 intervening sequence (IVS) 8+4 cystosine thymine (C/T) and IVS 8+32 thymine cystosine (T/C) polymorphisms using pyrosequencing technique.

RESULTS

There was a significant difference in the OPA1 IVS 8 +32 T/C genotype frequencies between the NTG patients and control subjects (P = .0074), and the frequency of the cystosine (C) allele was significantly higher in the NTG patients compared with the control subjects (19.3% vs 11.6%, P = .0036). Adjusted for age, gender, refractive error, and intraocular pressure, an almost two-fold increased risk of NTG (P = .004, odds ratio 2.27, 95% confidence interval 1.30 to 3.97) was found with the OPA1 IVS 8 +32 C allele. Although there was no significant difference in the OPA1 IVS 8 +32 T/C genotype frequencies between the HTG patients and control subjects (P = .24), the age at the time of diagnosis (53 +/- 11.0 years, median value +/- median absolute deviation) in the HTG patients with the OPA1 IVS 8 +32 C allele was significantly younger than that (57 +/- 12.0 years) in the HTG patients without C allele (P = .048).

CONCLUSIONS

The OPA1 IVS 8 +32 T/C polymorphism is associated with NTG, and may be used as a marker for this disease association. This polymorphism also influences the phenotypic feature in patients with HTG and should be considered to be a genetic risk factor not only for NTG, but also for HTG.

Authors+Show Affiliations

Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo-shi, Yamanashi 409-3898, Japan. fmabushi@yamanashi.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17188046

Citation

Mabuchi, Fumihiko, et al. "The OPA1 Gene Polymorphism Is Associated With Normal Tension and High Tension Glaucoma." American Journal of Ophthalmology, vol. 143, no. 1, 2007, pp. 125-130.
Mabuchi F, Tang S, Kashiwagi K, et al. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol. 2007;143(1):125-130.
Mabuchi, F., Tang, S., Kashiwagi, K., Yamagata, Z., Iijima, H., & Tsukahara, S. (2007). The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. American Journal of Ophthalmology, 143(1), 125-130.
Mabuchi F, et al. The OPA1 Gene Polymorphism Is Associated With Normal Tension and High Tension Glaucoma. Am J Ophthalmol. 2007;143(1):125-130. PubMed PMID: 17188046.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. AU - Mabuchi,Fumihiko, AU - Tang,Sa, AU - Kashiwagi,Kenji, AU - Yamagata,Zentaro, AU - Iijima,Hiroyuki, AU - Tsukahara,Shigeo, Y1 - 2006/10/23/ PY - 2006/07/03/received PY - 2006/08/26/revised PY - 2006/09/12/accepted PY - 2006/12/26/pubmed PY - 2007/2/9/medline PY - 2006/12/26/entrez SP - 125 EP - 130 JF - American journal of ophthalmology JO - Am J Ophthalmol VL - 143 IS - 1 N2 - PURPOSE: To assess whether genetic polymorphisms of optic atrophy 1 (OPA1) are associated with primary open-angle glaucoma (POAG). DESIGN: Prospective case control association study. METHODS: Japanese patients with normal tension glaucoma (NTG, n = 194), and high tension glaucoma (HTG, n = 191), and 185 control subjects were analyzed for the OPA1 intervening sequence (IVS) 8+4 cystosine thymine (C/T) and IVS 8+32 thymine cystosine (T/C) polymorphisms using pyrosequencing technique. RESULTS: There was a significant difference in the OPA1 IVS 8 +32 T/C genotype frequencies between the NTG patients and control subjects (P = .0074), and the frequency of the cystosine (C) allele was significantly higher in the NTG patients compared with the control subjects (19.3% vs 11.6%, P = .0036). Adjusted for age, gender, refractive error, and intraocular pressure, an almost two-fold increased risk of NTG (P = .004, odds ratio 2.27, 95% confidence interval 1.30 to 3.97) was found with the OPA1 IVS 8 +32 C allele. Although there was no significant difference in the OPA1 IVS 8 +32 T/C genotype frequencies between the HTG patients and control subjects (P = .24), the age at the time of diagnosis (53 +/- 11.0 years, median value +/- median absolute deviation) in the HTG patients with the OPA1 IVS 8 +32 C allele was significantly younger than that (57 +/- 12.0 years) in the HTG patients without C allele (P = .048). CONCLUSIONS: The OPA1 IVS 8 +32 T/C polymorphism is associated with NTG, and may be used as a marker for this disease association. This polymorphism also influences the phenotypic feature in patients with HTG and should be considered to be a genetic risk factor not only for NTG, but also for HTG. SN - 0002-9394 UR - https://www.unboundmedicine.com/medline/citation/17188046/The_OPA1_gene_polymorphism_is_associated_with_normal_tension_and_high_tension_glaucoma_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9394(06)01081-6 DB - PRIME DP - Unbound Medicine ER -