http://purl.uniprot.org/citations/19399715 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/19399715 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundAn 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 methods226 patients with exsudative AMD and 179 controls without AMD were included. Genomic DNA was extracted from saliva samples.ResultsA 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.ConclusionsWe 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."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.org/dc/terms/identifier | "doi:10.1055/s-0028-1109318"xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/author | "Combadiere C."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/author | "Sennlaub F."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/author | "Baatz H."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/author | "Coudert M."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/author | "Poupel L."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/name | "Klin Monbl Augenheilkd"xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/pages | "654-658"xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/title | "[Polymorphisms of complement factor genes and age-related macular degeneration in a German population]."xsd:string |
http://purl.uniprot.org/citations/19399715 | http://purl.uniprot.org/core/volume | "226"xsd:string |
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