42 Kapitel 2 · Genetik

Erst im Jahre 2005 konnten zwei hauptverantwortliche AMDSuszeptibilitätsloci, CFH und ARMS2/HTRA1, identifiziert werden. Zusammen sind diese beiden Gene vermutlich für mehr

2als 50% der AMD-Fälle verantwortlich.

Die Befunde am CFH-Genort sprechen deutlich für eine Beteiligung des alternativen Komplementwegs in der AMDPathogenese. Sich daraus ableitende Studien entdeckten drei weitere AMD-assoziierte Gene der Komplementkaskade, CFB, C3 und CFI.

Die funktionelle Bedeutung des ARMS2/HTRA1-Genortes für die AMD-Pathogenese wird gegenwärtig kontrovers diskutiert und ist Gegenstand intensiver Forschung. Dieser zweite Hauptgenort könnte jedoch einen weiteren, vom Komplementsystem unabhängigen Weg für die AMD-Ätiologie aufdecken.

Die neuesten Entwicklungen in Hochdurchsatz-Technologien lassen, wie im Beispiel von TIMP3, CETP und LIPC gezeigt, auf die Identifizierung neuer AMD-Suszeptibilitätsgene hoffen, insbesondere auf solche mit einem geringeren Beitrag zur allgemeinen AMD-Krankheitslast.

Eine umfassende genetische Profilierung der AMD-Suszepti- bilität wird den Weg für neue und innovative Interventionsmöglichkeiten in Prävention und Therapie von AMD ebnen.

Damit nähern wir uns einer personalisierten und somit individuell effizienten Medizin.

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44 Kapitel 2 · Genetik

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