May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Plekha1-loc387715-htra1 Polymorphisms and Exudative Age-Related Macular Degeneration in the French Population
Author Affiliations & Notes
  • N. Leveziel
    Ophthalmology, Creteil Eye Clinic Univ Hospital, CRETEIL, France
    Department of Molecular Biology and Biochemistry, Universite Pierre et Marie Curie, Paris, France
  • F. Richard
    Inserm umr744, Institut Pasteur de Lille, Université Lille 2, France
  • V. Barbu
    LCBGM, Universite Pierre et Marie Curie, Hopital Saint-Antoine/Paris, France
  • A. Zourdani
    Ophthalmology, Creteil Eye Clinic Univ Hospital, CRETEIL, France
  • G. Morineau
    Department of Molecular Biology and Biochemistry, Hopital Saint-Antoine, Paris, France
  • J. Zerbib
    Ophthalmology, Creteil Eye Clinic Univ Hospital, CRETEIL, France
  • G. Coscas
    Ophthalmology, Creteil Eye Clinic Univ Hospital, CRETEIL, France
  • G. Soubrane
    Ophthalmology, Creteil Eye Clinic Univ Hospital, CRETEIL, France
  • P. Benlian
    Department of Molecular Biology and Biochemistry, Universite Pierre et Marie Curie, Hopital Saint-Antoine, Paris, France
  • E. Souied
    Ophthalmology, Creteil Eye Clinic Univ Hospital, CRETEIL, France
  • Footnotes
    Commercial Relationships  N. Leveziel, None; F. Richard, None; V. Barbu, None; A. Zourdani, None; G. Morineau, None; J. Zerbib, None; G. Coscas, None; G. Soubrane, None; P. Benlian, None; E. Souied, None.
  • Footnotes
    Support  RETINA FRANCE - FONDATION PAULETTE DARTY
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 237. doi:https://doi.org/
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      N. Leveziel, F. Richard, V. Barbu, A. Zourdani, G. Morineau, J. Zerbib, G. Coscas, G. Soubrane, P. Benlian, E. Souied; Plekha1-loc387715-htra1 Polymorphisms and Exudative Age-Related Macular Degeneration in the French Population. Invest. Ophthalmol. Vis. Sci. 2008;49(13):237. doi: https://doi.org/.

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

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Abstract

Purpose: : Identification of genetic factors for age-related macular degeneration (AMD) is of crucial importance in this common cause of blindness. Exudative AMD is rapidly progressive and usually associated with severe prognosis. Our purpose was to investigate this association on locus 10q26 in a case-control study including French patients specifically affected with exudative AMD.

Methods: : Polymorphisms rs4146894:G>A of Pleckstrin Homology Domain-containing Protein Family A member 1 (PLEKHA1) gene, rs10490924:G>T at LOC387715, and rs11200638:G>A of HTRA1 (HTRA serine peptidase 1) gene were analysed in AMD cases (n=118, age=72.3±3.8 years old) and healthy controls (n=116, age=72.0±3.8 years old).

Results: : PLEKHA1 polymorphism was associated with AMD. The A allele frequency was 0.67 in cases versus 0.41 in controls, (p=0.0001). After age and sex adjustment, the odds ratio for risk of AMD was 9.1 (4.0-20.9, 95% CI, p=0.0001) for the AA genotype and 2.6 (1.3-5.5, 95% CI, p=0.04) for the AG genotype, conditional on HTRA1. Association was even stronger and independent with HTRA1. The A allele frequency was 0.51 in cases versus 0.22 in controls, (p=0.0001). The odds ratio was 15.5 (5.5-43.9, 95% CI, p=0.0001) for the AA genotype and 3.4 (1.9-6.1, 95% CI, p=0.0001) for the AG genotype. No further information was obtained from LOC387715 due to virtually complete linkage disequilibrium with HTRA1 polymorphism in cases (D'=1.0) and controls (D'=0.98). Although a role for PLEKHA1 could not be totally excluded, there was a four times higher AMD risk was associated with haplotype "A-T-A" involving "PLEKHA1-LOC387715-HTRA1" risk alleles.

Conclusions: : Compared to PLEKHA1, HTRA1/LOC387715 genetic variations were independently and strongly associated with exudative AMD in the French population. Chromosome-10 genetic variants appear as potentially useful risk markers for early detection of AMD.

Keywords: age-related macular degeneration • genetics • retina 
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