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Klin Monbl Augenheilkd 2009; 226(8): 654-658
DOI: 10.1055/s-0028-1109318
Klinische Studie

© Georg Thieme Verlag KG Stuttgart · New York

Komplementfaktor-Polymorphismen und altersassoziierte Makuladegeneration in einer Gruppe deutscher Patienten

Polymorphisms of Complement Factor Genes and Age-Related Macular Degeneration in a German PopulationH. Baatz1 , L. Poupel2 , M. Coudert3 , F. Sennlaub4 , C. Combadiere2
  • 1Augenärztliche Gemeinschaftspraxis, Augenzentrum Recklinghausen und Zentrum der Augenheilkunde, J-W Goethe Universität Frankfurt am Main
  • 2Assistance Public-Hôpitaux de Paris, Groupe Hospitalier, INSERM, UMR-S 543, Laboratoire d’Immunologie Cellulaire, Paris
  • 3Unité de Biostatistique EA 3974, UPMC Univ Paris 06
  • 4INSERM U 872, Centre de Recherche des Cordeliers UMR S 872, Université Pierre et Marie Curie, Université Paris Descartes und Assistence Public Hôpitaux de Paris, Hôtel Dieu, Service d'Ophthalmologie, Paris, France
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Publication History

Eingegangen: 21.12.2008

Angenommen: 19.2.2009

Publication Date:
27 April 2009 (online)

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Zusammenfassung

Hintergrund: Die Assoziation der Tyr402His-Variante von Komplementfaktor H (CFH) mit einer altersassoziierten Makuladegeneration (AMD) wurde für verschiedene kaukasische Populationen gezeigt, während die Ergebnisse für andere Polymorphismen des Komplementsystems teilweise widersprüchlich sind. Wir haben die Verteilung verschiedener Einzelnukleotid-Polymorphismen (SNP) von Faktoren des Komplementsystems (CFH, C 2, C 3, Faktor B) bei Patienten mit einer exsudativen AMD und gesunden Kontrollen untersucht. Patienten/Material und Methoden: Es wurden 226 Patienten mit exsudativer AMD und 179 Kontrollen ohne AMD eingeschlossen. Genomische DNA wurde aus Speichelproben isoliert. Ergebnisse: Eine signifikante Assoziation mit exsudativer AMD wurde nur für SNP rs1061170 (Y402 H) im CFH-Gen gefunden. Für rs1047286 (P292L) und rs2230199 (R102G) im C 3-Gen, rs547154 (IVS10) und rs9332739 (E318D) im C 2-Gen und rs4151667 (L9 H) im Faktor-B-Gen wurden keine Assoziation mit einer exsudativen AMD gefunden. Schlussfolgerungen: Wir replizierten eine Assoziation der Y 402 H-Variante mit exsudativer AMD in der von uns untersuchten Population. Obwohl die Varianten R 102G, IVS10, E 318D und L 9 H in früheren Studien mit AMD assoziiert waren, konnten wir dies nicht bestätigen. Dies zeigt ein differenziertes Assoziationsmuster seltener Genvarianten mit der AMD.

Abstract

Background: An association of the Tyr402His variant of the complement factor H (CFH) gene with age-related macular degeneration (AMD) has been shown in several Caucasian populations, while studies for an association with other single nucleotide polymorphisms (SNP) of complement system genes have produced inconsistent results. We examined the distribution of several SNPs of complement system genes (CFH, C 2, C 3, factor B) in patients with exsudative AMD and healthy controls. Patients/Materials and Methods: 226 patients with exsudative AMD and 179 controls without AMD were included. Genomic DNA was extracted from saliva samples. Results: A significant association with exsudative AMD was found only for SNP rs1061170 (Y402 H) in the CFH gene. For rs1047286 (P292L) and rs2230199 (R102G) in the C 3 gene, rs547154 (IVS10) and rs9332739 (E318D) in the C 2 gene and rs4151667 (L9 H) in CFB gene, no associations with exsudative AMD were found. Conclusions: We have replicated an association of the Y 402 H variant with exsudative AMD in our population. Although variants R 102G, IVS10, E 318D and L 9 H have been shown to be associated with AMD in earlier studies, we could not confirm these findings. The results show that AMD has variable association patterns with rare variants in different populations.

Schlüsselwörter

Genetik - Retina - AMD

Key words

genetics - retina - AMD

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PD Dr. Holger Baatz

Augenärztliche Gemeinschaftspraxis, Augenzentrum Recklinghausen

Erlbruch 34 – 36

45657 Recklinghausen

Phone: + + 49/23 61/30 69 71 00

Fax: + + 49/23 61/3 06 97 99

Email: holger.baatz@augenzentrum.org