June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
International meta-analysis of genetic factors influencing intraocular pressure: the International Glaucoma Genetics Consortium Study
Pirro Hysi; Ching-Yu Cheng; Tin Aung; Jamie Craig; Christopher Hammond; Andrew Lotery; Norbert Pfeiffer; Cornelia van Duijn; Ananth Viswanathan; Janey Wiggs
Author Affiliations & Notes
  • Pirro Hysi
    Twin Research & Genetic Epidemiology, King's College London, London, United Kingdom
  • Ching-Yu Cheng
    Eye Research Institute, National University of Singapore, Singapore, Singapore
  • Tin Aung
    Eye Research Institute, National University of Singapore, Singapore, Singapore
  • Jamie Craig
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
  • Christopher Hammond
    Twin Research & Genetic Epidemiology, King's College London, London, United Kingdom
  • Andrew Lotery
    Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, Southampton, United Kingdom
  • Norbert Pfeiffer
    Department of Ophthalmology, Johannes Gutenberg University Medical Centre, Mainz, Germany
  • Cornelia van Duijn
    Department of Epidemiology and Clinical Genetics, Erasmus University Medical Centre, Rotterdam, Netherlands
  • Ananth Viswanathan
    UCL Institute of Ophthalmology, University College London, London, United Kingdom
  • Janey Wiggs
    Department of Ophthalmology, Mass Eye & Ear Infirmary, Harvard Medical School, Harvard University, Boston, MA
  • Footnotes
    Commercial Relationships Pirro Hysi, None; Ching-Yu Cheng, None; Tin Aung, Alcon (R), Alcon (C), Alcon (F), Allergan (R), Allergan (C), Carl Zeiss Meditec (F), Carl Zeiss Meditec (R), Ellex (F), Ellex (R), Santen (R); Jamie Craig, None; Christopher Hammond, None; Andrew Lotery, Novartis (F), Bayer (R); Norbert Pfeiffer, Sensimed AG (F), Sensimed AG (R), MSD (F), MSD (R), Alcon (F), Allergan (F), Novartis (F), Novartis (R), Bayer (F), Heidelberg Engineering (F), Bausch&Lomb (F), Boehringer-Ingelheim (F), Carl Zeiss Meditech (F), Chibret (F), Nidek (F), Pfizer (F), Santen (F), Santen (R), Topcon (F), Ivantis Inc (F), Ivantis Inc (R); Cornelia van Duijn, None; Ananth Viswanathan, None; Janey Wiggs, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1737. doi:
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      Pirro Hysi, Ching-Yu Cheng, Tin Aung, Jamie Craig, Christopher Hammond, Andrew Lotery, Norbert Pfeiffer, Cornelia van Duijn, Ananth Viswanathan, Janey Wiggs; International meta-analysis of genetic factors influencing intraocular pressure: the International Glaucoma Genetics Consortium Study. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1737.

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Abstract

Purpose: . Intraocular Pressure (IOP) is a major predictor of glaucoma and currently the only modifiable risk factor in the management of Primary Open Angle Glaucoma. Genome-wide association studies (GWAS) have, to date, identified some common genetic variants associated with IOP (TMCO1, GAS7) and with glaucoma (CDKN2AB, TMCO1, CAV1/2), but only explain a fraction of the heritability of these traits. The International Glaucoma Genetics Consortium (IGGC) aims to identify further genes and genetic pathways that influence IOP, by increasing sample sizes through international GWAS meta-analyses.

Methods: GWAS of 2.5 million Single Nucleotide Polymorphisms (SNPs) present in the HapMap2 databases were individually carried out in each of the 15 centers which at the time of submission were contributing to the IGGC IOP project. Association was done using a linear regression model with IOP as an outcome and SNPs as a predictor, adjusting for age and sex. Genetic associations observed for each locus at individual centers were then meta-analyzed together.

Results: Meta-analysis of data from 28,712 participating subjects found strong associations with a number of genetic loci, some of which have been previously described in the literature in relation to glaucoma or IOP. The strongest associations were observed for two genetic loci, within the genetic sequences of the CAV1 (p= 4.8x10-09 for rs10258482) and the GAS7 genes (p=5.5x10-11 for rs9913911) respectively. Interestingly only suggestive association with IOP was observed for the TMCO1 locus (p=4.7x10-07 for rs6696454). Novel loci were also associated on chromosomes 9 and 11 at genome-wide significance level.

Conclusions: The IGGC IOP study is an ongoing project that has confirmed existing and discovered new genetic loci that influence intraocular pressure in the general population.

Keywords: 568 intraocular pressure • 539 genetics • 464 clinical (human) or epidemiologic studies: risk factor assessment  
© 2013, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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