Investigations on the association between normal tension glaucomaand single nucleotide polymorphisms of the endothelin-1 and endothelinreceptor genes

[摘要] Purpose: In normal tension glaucoma (NTG), intraocular pressure iswithin normal the range; thus, some mechanism other than increasedpressure contributes to the optic neuropathy. Endothelin may be animportant contributor to the development of the optic neuropathycharacteristic of glaucoma. We investigated whether polymorphisms of theendothelin-1, endothelin receptor type A, and endothelin receptor type Bgenes were associated with NTG.Methods: Sixty-seven Korean NTG patients and 100 healthy Koreansubjects were enrolled. DNA from peripheral blood leukocytes wasextracted and genotype distributions of six polymorphisms in genesencoding 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 alleledistributions were compared between patients and controls. In NTGsubjects, untreated baseline intraocular pressure and age at the time ofdiagnosis, as well as the mean deviation and pattern standard deviationvalues of automated static perimetry were examined for an associationwith these genetic polymorphisms.Results: The polymorphism of EDNRA:c.*1222C>T wassignificantly 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 polymorphismwas associated with a lower baseline intraocular pressure than in theGG+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 geneis associated with NTG.

[学科分类] 生物化学/生物物理