gms | German Medical Science

23rd Annual Meeting of the German Retina Society

German Retina Society

24.09. - 25.09.2010, Freiburg

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Genetic basics of early AMD: Results of genotype-phenotype analyses in the Münster Aging and Retina Study (MARS)

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  • Martha Dietzel - Department of Ophthalmology, St. Franziskus-Hospital Münster
  • A. Farwick - Institute of Epidemiology, Wilhelms-University Münster
  • B. Heimes - Department of Ophthalmology, St. Franziskus-Hospital Münster
  • D. Pauleikhoff - Department of Ophthalmology, St. Franziskus-Hospital Münster
  • H.-W. Hense - Institute of Epidemiology, Wilhelms-University Münster

German Retina Society. 23rd Annual Conference of the German Retina Society. Freiburg i. Br., 24.-25.09.2010. Düsseldorf: German Medical Science GMS Publishing House; 2010. Doc10rg01

doi: 10.3205/10rg01, urn:nbn:de:0183-10rg019

This is the English version of the article.
The German version can be found at: http://www.egms.de/de/meetings/rg2010/10rg01.shtml

Published: September 21, 2010

© 2010 Dietzel et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.

Outline

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Purpose: Previous investigations have demonstrated significant association of polymorphisms in CFH- and ARMS2-genes and age-related macular degeneration (AMD). This study aims to further assess the potential relationship between drusen as specific clinical characteristics of early AMD and AMD-associated polymorphisms in CFH and ARMS2 in a large clinical cohort.

Methods: In the MARS study drusen were detected in 433 patients with early AMD and 170 controls according to Rotterdam classification using fundus photographs. Drusen features such as number, confluence and area were assessed by observers with special training. Findings were correlated with polymorphisms in CFH (SNP rs1061170) and ARMS2 (SNP rs10490924) using uni- and multivariate statistics (chi-square test, logististic regressions).

Results: Significant association between increasing levels of AMD and AMD-associated polymorphisms in CFH and ARMS2 could be shown (p each<0.001). Drusen features such as number, confluence and area were significantly associated with CFH and ARMS2 each (p each<0.01). Thereby the relationship between CFH and drusen was already significant in marginal drusen features, whereas for ARMS2 this relation was valid only for advanced stages of drusen (p each<0.01).

Conclusions: The present study showed significant association between AMD-associated polymorphisms in CFH- and ARMS2-gene and characteristics of early AMD. Thereby CFH already seems to play a role in early drusen features, while ARMS2 becomes more important in advanced stages of early AMD. Our data demonstrate the close relation of genetic parameters and clinical findings in early AMD. Future studies should focus on potential impact on patient care and prognostic value.