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Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes.
Mol Vis. 2006 Aug 29; 12:1016-21.MV

Abstract

PURPOSE

In normal tension glaucoma (NTG), intraocular pressure is within normal the range; thus, some mechanism other than increased pressure contributes to the optic neuropathy. Endothelin may be an important contributor to the development of the optic neuropathy characteristic of glaucoma. We investigated whether polymorphisms of the endothelin-1, endothelin receptor type A, and endothelin receptor type B genes were associated with NTG.

METHODS

Sixty-seven Korean NTG patients and 100 healthy Korean subjects were enrolled. DNA from peripheral blood leukocytes was extracted and genotype distributions of six polymorphisms in genes encoding endothelin-1 (EDN1:c.-131dupA, EDN1:c.594G > T), endothelin receptor type A (EDNRA:c.-231G > A, EDNRA:c.*70C > G, EDNRA:c.*1222C > T), and endothelin receptor type B (EDNRB:c.831A > G) were determined. Genotype and allele distributions were compared between patients and controls. In NTG subjects, untreated baseline intraocular pressure and age at the time of diagnosis, as well as the mean deviation and pattern standard deviation values of automated static perimetry were examined for an association with these genetic polymorphisms.

RESULTS

The polymorphism of EDNRA:c.*1222C > T was significantly associated with NTG (p = 0.028, OR = 3.33, 95% CI 1.05-10.24). In addition, the AA genotype of the EDNRA:c.-231G > A polymorphism was associated with a lower baseline intraocular pressure than in the GG+GA genotype group (14.0 +/- 2.8 mm Hg versus 16.2 +/- 2.3 mm Hg, p = 0.047). No polymorphism was associated with visual field parameters.

CONCLUSIONS

A polymorphism of the endothelin receptor type A gene is associated with NTG.

Authors+Show Affiliations

Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea.No affiliation info availableNo affiliation info availableNo 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

16971893

Citation

Kim, Seok Hwan, et al. "Investigations On the Association Between Normal Tension Glaucoma and Single Nucleotide Polymorphisms of the Endothelin-1 and Endothelin Receptor Genes." Molecular Vision, vol. 12, 2006, pp. 1016-21.
Kim SH, Kim JY, Kim DM, et al. Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes. Mol Vis. 2006;12:1016-21.
Kim, S. H., Kim, J. Y., Kim, D. M., Ko, H. S., Kim, S. Y., Yoo, T., Hwang, S. S., & Park, S. S. (2006). Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes. Molecular Vision, 12, 1016-21.
Kim SH, et al. Investigations On the Association Between Normal Tension Glaucoma and Single Nucleotide Polymorphisms of the Endothelin-1 and Endothelin Receptor Genes. Mol Vis. 2006 Aug 29;12:1016-21. PubMed PMID: 16971893.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes. AU - Kim,Seok Hwan, AU - Kim,Ji Yeon, AU - Kim,Dong Myung, AU - Ko,Hyun Su, AU - Kim,Sung Yeun, AU - Yoo,Taiwoo, AU - Hwang,Seung Sik, AU - Park,Sung Sup, Y1 - 2006/08/29/ PY - 2006/9/15/pubmed PY - 2006/10/4/medline PY - 2006/9/15/entrez SP - 1016 EP - 21 JF - Molecular vision JO - Mol Vis VL - 12 N2 - PURPOSE: In normal tension glaucoma (NTG), intraocular pressure is within normal the range; thus, some mechanism other than increased pressure contributes to the optic neuropathy. Endothelin may be an important contributor to the development of the optic neuropathy characteristic of glaucoma. We investigated whether polymorphisms of the endothelin-1, endothelin receptor type A, and endothelin receptor type B genes were associated with NTG. METHODS: Sixty-seven Korean NTG patients and 100 healthy Korean subjects were enrolled. DNA from peripheral blood leukocytes was extracted and genotype distributions of six polymorphisms in genes encoding endothelin-1 (EDN1:c.-131dupA, EDN1:c.594G > T), endothelin receptor type A (EDNRA:c.-231G > A, EDNRA:c.*70C > G, EDNRA:c.*1222C > T), and endothelin receptor type B (EDNRB:c.831A > G) were determined. Genotype and allele distributions were compared between patients and controls. In NTG subjects, untreated baseline intraocular pressure and age at the time of diagnosis, as well as the mean deviation and pattern standard deviation values of automated static perimetry were examined for an association with these genetic polymorphisms. RESULTS: The polymorphism of EDNRA:c.*1222C > T was significantly associated with NTG (p = 0.028, OR = 3.33, 95% CI 1.05-10.24). In addition, the AA genotype of the EDNRA:c.-231G > A polymorphism was associated with a lower baseline intraocular pressure than in the GG+GA genotype group (14.0 +/- 2.8 mm Hg versus 16.2 +/- 2.3 mm Hg, p = 0.047). No polymorphism was associated with visual field parameters. CONCLUSIONS: A polymorphism of the endothelin receptor type A gene is associated with NTG. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/16971893/Investigations_on_the_association_between_normal_tension_glaucoma_and_single_nucleotide_polymorphisms_of_the_endothelin_1_and_endothelin_receptor_genes_ L2 - http://www.molvis.org/molvis/v12/a114/ DB - PRIME DP - Unbound Medicine ER -