PURPOSE: To test the hypothesis that there is a major genetic determinant of vertical disc diameter (VDD) and vertical cup-to-disc ratio (VCDR) in a large, population-based sample. METHODS: Data were collected from 3654 individuals, 49 years of age or older, participating in the Blue Mountains Eye Study. VDD and VCDR were determined from stereo optic disc photographs. Commingling analyses in SKUDRIVER/SKUMIX were performed in nonglaucomatous eyes to investigate whether the observed VDD and VCDR data were best described by a one-, two-, or three-distribution model. RESULTS: VDD data did not show evidence of commingling. After adjustment for the effects of age, VDD and intraocular pressure, the best model for VCDR consisted of a mixture of three distributions in Hardy-Weinberg equilibrium. The proportion of the variance in VCDR explained by this mixing component was 0.58. CONCLUSIONS: Findings from this study are consistent with the presence of a major gene that accounts for 58% of the variance in VCDR. These results strongly support further efforts to identify the genetic variants responsible for this quantitative trait, which is a key constituent of the phenotype of primary open-angle glaucoma (POAG).
PURPOSE: To test the hypothesis that there is a major genetic determinant of vertical disc diameter (VDD) and vertical cup-to-disc ratio (VCDR) in a large, population-based sample. METHODS: Data were collected from 3654 individuals, 49 years of age or older, participating in the Blue Mountains Eye Study. VDD and VCDR were determined from stereo optic disc photographs. Commingling analyses in SKUDRIVER/SKUMIX were performed in nonglaucomatous eyes to investigate whether the observed VDD and VCDR data were best described by a one-, two-, or three-distribution model. RESULTS: VDD data did not show evidence of commingling. After adjustment for the effects of age, VDD and intraocular pressure, the best model for VCDR consisted of a mixture of three distributions in Hardy-Weinberg equilibrium. The proportion of the variance in VCDR explained by this mixing component was 0.58. CONCLUSIONS: Findings from this study are consistent with the presence of a major gene that accounts for 58% of the variance in VCDR. These results strongly support further efforts to identify the genetic variants responsible for this quantitative trait, which is a key constituent of the phenotype of primary open-angle glaucoma (POAG).
Authors: Allen D Radant; Dorcas J Dobie; Monica E Calkins; Ann Olincy; David L Braff; Kristin S Cadenhead; Robert Freedman; Michael F Green; Tiffany A Greenwood; Raquel E Gur; Ruben C Gur; Gregory A Light; Sean P Meichle; Steve P Millard; Jim Mintz; Keith H Nuechterlein; Nicholas J Schork; Larry J Seidman; Larry J Siever; Jeremy M Silverman; William S Stone; Neal R Swerdlow; Ming T Tsuang; Bruce I Turetsky; Debby W Tsuang Journal: Psychophysiology Date: 2010-04-05 Impact factor: 4.016
Authors: Madhusudhanan Balasubramanian; David J Kriegman; Christopher Bowd; Michael Holst; Robert N Weinreb; Pamela A Sample; Linda M Zangwill Journal: Invest Ophthalmol Vis Sci Date: 2012-06-14 Impact factor: 4.799
Authors: Henriët Springelkamp; René Höhn; Aniket Mishra; Pirro G Hysi; Chiea-Chuen Khor; Stephanie J Loomis; Jessica N Cooke Bailey; Jane Gibson; Gudmar Thorleifsson; Sarah F Janssen; Xiaoyan Luo; Wishal D Ramdas; Eranga Vithana; Monisha E Nongpiur; Grant W Montgomery; Liang Xu; Jenny E Mountain; Puya Gharahkhani; Yi Lu; Najaf Amin; Lennart C Karssen; Kar-Seng Sim; Elisabeth M van Leeuwen; Adriana I Iglesias; Virginie J M Verhoeven; Michael A Hauser; Seng-Chee Loon; Dominiek D G Despriet; Abhishek Nag; Cristina Venturini; Paul G Sanfilippo; Arne Schillert; Jae H Kang; John Landers; Fridbert Jonasson; Angela J Cree; Leonieke M E van Koolwijk; Fernando Rivadeneira; Emmanuelle Souzeau; Vesteinn Jonsson; Geeta Menon; Robert N Weinreb; Paulus T V M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Sarah Ennis; Unnur Thorsteinsdottir; Kathryn P Burdon; Timothy D Spector; Alireza Mirshahi; Seang-Mei Saw; Johannes R Vingerling; Yik-Ying Teo; Jonathan L Haines; Roger C W Wolfs; Hans G Lemij; E-Shyong Tai; Nomdo M Jansonius; Jost B Jonas; Ching-Yu Cheng; Tin Aung; Ananth C Viswanathan; Caroline C W Klaver; Jamie E Craig; Stuart Macgregor; David A Mackey; Andrew J Lotery; Kari Stefansson; Arthur A B Bergen; Terri L Young; Janey L Wiggs; Norbert Pfeiffer; Tien-Yin Wong; Louis R Pasquale; Alex W Hewitt; Cornelia M van Duijn; Christopher J Hammond Journal: Nat Commun Date: 2014-09-22 Impact factor: 14.919