September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Lack of association between primary angle-closure glaucoma susceptibility loci and the phenotypes axial length to lens thickness ratio and lens thickness to axial length factor
Author Affiliations & Notes
  • Rene Hoehn
    Ophthalmology, Inselspital Bern, Bern, Switzerland
    Ophthalmology, University Medical Center Mainz, Mainz, Germany
  • Aslihan Gerhold-Ay
    Institute for Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, Mainz, Germany
  • Stefan Nickels
    Ophthalmology, University Medical Center Mainz, Mainz, Germany
  • Thomas Muenzel
    Center for Cardiology, University Medical Center Mainz, Mainz, Germany
  • Karl J Lackner
    Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany
  • Manfred Beutel
    Department of Psychosomatic Medicine and Psychotherapy, University Medical Center Mainz, Mainz, Germany
  • Tanja Zeller
    Department of General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany
    German Center for Cardiovascular Research (DZHK), Partner Site Hamburg/Kiel/Lübeck , Hamburg, Germany
  • Philipp S Wild
    Preventive Cardiology and Preventive Medicine / Center for Cardiology and Center of Thrombosis and Hemostasis, University Medical Center Mainz, Mainz, Germany
    German Center for Cardiovascular Research (DZHK), Partner site RhineMain, Mainz, Germany
  • Norbert Pfeiffer
    Ophthalmology, University Medical Center Mainz, Mainz, Germany
  • Harald Binder
    Institute for Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, Mainz, Germany
  • Footnotes
    Commercial Relationships   Rene Hoehn, None; Aslihan Gerhold-Ay, None; Stefan Nickels, None; Thomas Muenzel, None; Karl Lackner, None; Manfred Beutel, None; Tanja Zeller, None; Philipp Wild, Federal Ministry of Education and Research (BMBF 01EO1503) (F); Norbert Pfeiffer, None; Harald Binder, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 805. doi:
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      Rene Hoehn, Aslihan Gerhold-Ay, Stefan Nickels, Thomas Muenzel, Karl J Lackner, Manfred Beutel, Tanja Zeller, Philipp S Wild, Norbert Pfeiffer, Harald Binder; Lack of association between primary angle-closure glaucoma susceptibility loci and the phenotypes axial length to lens thickness ratio and lens thickness to axial length factor. Invest. Ophthalmol. Vis. Sci. 2016;57(12):805.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : The genetic background in the development of primary angle closure glaucoma (PACG) is still inconsistent and little is known in European populations. This study investigated the genetic overlap between the biometric risk predictors of PACG axial length to lens thickness ratio (ALR) or the lens thickness to axial length factor (LAF) and known genetic variants associated with PACG.

Methods : Within the Gutenberg Health Study (GHS), a genome-wide association study for ALR and LAF was conducted in two cohorts (GHS 1, n = 1725 and GHS 2, n = 832) of Caucasian individuals (age range, 40 - 79) with a subsequent meta-analysis of both cohorts. The GHS is a population-based prospective, observational single center study in the Rhine-Main-Region in mid-western Germany. Axial length (AL) and lens thickness (LT) were measured using optical low-coherence reflectometry (Lenstar LS 900). Any pseudophakic or aphakic eye was excluded from analysis. The ALR was calculated by dividing AL by LT and the LAF by dividing LT by AL x 10. The average of both eyes or the value of the remaining eye were used for association analysis.
Genotyping was performed using the Affymetrix Genome-Wide Human SNP Array 6.0 and genotyped data were imputed with MACH/Minimac to the 1000 Genomes reference panel (phase 1, March 2012). Genome-wide association was tested by a linear regression model, adjusting for age and sex (ProbABEL 0.4.5 software). Finally, a meta-analysis based on the effect and standard error of both single analyzed cohorts (GHS 1 and GHS 2) was performed using the METAL software.

Results : None of the known SNPs to be associated with PACG (rs1015213, rs3753841, rs11024102, rs1401999, rs4656461, rs1900004, rs17576 or rs2250880) showed an association with ALR or LAF (p>0.05 for all listed SNPs). However, we identified novel SNPs of borderline significance associated with ALR and LAF. Results of the ALR exhibited systematically lower p-values than for the LAF.

Conclusions : While ALR and LAF are clinical useful risk predictors for PACG, they showed no strong genetic overlap with genetic variants previously associated with PACG, but these clinical-based endophenotype might help to improve our genetic insight. However, our results emphasize that the knowledge of the genetic background of PACG is still limited.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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