PURPOSE: Endothelin 1 (ET-1), a potent vasoconstrictor, may affect regulation of intraocular pressure and ocular vessel tone. Thus, ET-1 and its receptors may contribute to development of glaucoma. We investigated whether gene polymorphisms of ET-1 (EDN1) and its receptors ETA (EDNRA) and ETB (EDNRB) were associated with glaucoma phenotypes and clinical features. METHODS: We studied 224 normal Japanese controls and 426 open angle glaucoma (OAG) patients including 176 with primary open angle glaucoma (POAG) and 250 with normal tension glaucoma (NTG). Nine single nucleotide polymorphisms were detected among the participants using the Invader assay; four for EDN1 (T-1370G, +138/ex1 del/ins, G8002A, K198N), four for EDNRA (G-231A, H323H, C+70G, C+1222T), and one for EDNRB (L277L). Genotype distributions were compared between normal controls and OAG. Age at diagnosis, untreated maximum intraocular pressure (IOP), and visual field defects at diagnosis were examined for association with polymorphisms. RESULTS: Of the 9 polymorphisms, genotype distributions showed no significant differences between OAG patients and controls adjusted by age. The GG genotype of EDNRA/C+70G was associated with worse visual field defects in NTG patients (p=0.014; Mann-Whitney U test, and p=0.027; logistic regression analysis). CONCLUSIONS: The polymorphism of EDNRA/C+70G may be related to NTG risk factors.
PURPOSE:Endothelin 1 (ET-1), a potent vasoconstrictor, may affect regulation of intraocular pressure and ocular vessel tone. Thus, ET-1 and its receptors may contribute to development of glaucoma. We investigated whether gene polymorphisms of ET-1 (EDN1) and its receptors ETA (EDNRA) and ETB (EDNRB) were associated with glaucoma phenotypes and clinical features. METHODS: We studied 224 normal Japanese controls and 426 open angle glaucoma (OAG) patients including 176 with primary open angle glaucoma (POAG) and 250 with normal tension glaucoma (NTG). Nine single nucleotide polymorphisms were detected among the participants using the Invader assay; four for EDN1 (T-1370G, +138/ex1 del/ins, G8002A, K198N), four for EDNRA (G-231A, H323H, C+70G, C+1222T), and one for EDNRB (L277L). Genotype distributions were compared between normal controls and OAG. Age at diagnosis, untreated maximum intraocular pressure (IOP), and visual field defects at diagnosis were examined for association with polymorphisms. RESULTS: Of the 9 polymorphisms, genotype distributions showed no significant differences between OAG patients and controls adjusted by age. The GG genotype of EDNRA/C+70G was associated with worse visual field defects in NTG patients (p=0.014; Mann-Whitney U test, and p=0.027; logistic regression analysis). CONCLUSIONS: The polymorphism of EDNRA/C+70G may be related to NTG risk factors.
Authors: Rebecca Darrah; Edward McKone; Clare O'Connor; Christine Rodgers; Alan Genatossio; Sharon McNamara; Ronald Gibson; J Stuart Elborn; Madeleine Ennis; Charles G Gallagher; Noor Kalsheker; Moira Aitken; Dawn Wiese; John Dunn; Paul Smith; Rhonda Pace; Douglas Londono; Katrina A B Goddard; Michael R Knowles; Mitchell L Drumm Journal: Physiol Genomics Date: 2009-12-22 Impact factor: 3.107
Authors: M Kamio; A Meguro; M Ota; N Nomura; K Kashiwagi; F Mabuchi; H Iijima; K Kawase; T Yamamoto; M Nakamura; A Negi; T Sagara; T Nishida; M Inatani; H Tanihara; M Aihara; M Araie; T Fukuchi; H Abe; T Higashide; K Sugiyama; T Kanamoto; Y Kiuchi; A Iwase; S Ohno; H Inoko; N Mizuki Journal: Clin Ophthalmol Date: 2009-06-02
Authors: Sarah F Janssen; Theo G M F Gorgels; Koen Bossers; Jacoline B Ten Brink; Anke H W Essing; Martijn Nagtegaal; Peter J van der Spek; Nomdo M Jansonius; Arthur A B Bergen Journal: PLoS One Date: 2012-09-18 Impact factor: 3.240