| http://purl.uniprot.org/citations/20861866 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20861866 | http://www.w3.org/2000/01/rdf-schema#comment | "Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in the developed world. We conducted a genome-wide association study in a series of families enriched for AMD and completed a meta-analysis of this new data with results from reanalysis of an existing study of a late-stage case-control cohort. We tested the top findings for replication in 1896 cases and 1866 controls and identified two novel genetic protective factors for AMD. In addition to the complement factor H (CFH) (P=2.3 × 10⁻⁶⁴) and age-related maculopathy susceptibility 2 (ARMS2) (P=1.2 × 10⁻⁶⁰) loci, we observed a protective effect at rs429608, an intronic SNP in SKIV2L (P=5.3 × 10⁻¹⁵), a gene near the complement component 2 (C2)/complement factor B (BF) locus, that indicates the protective effect may be mediated by variants other than the C2/BF variants previously studied. Haplotype analysis at this locus identified three protective haplotypes defined by the rs429608 protective allele. We also identified a new potentially protective effect at rs2679798 in MYRIP (P=2.9 × 10⁻⁴), a gene involved in retinal pigment epithelium melanosome trafficking. Interestingly, MYRIP was initially identified in the family-based scan and was confirmed in the case-control set. From these efforts, we report the identification of two novel protective factors for AMD and confirm the previously known associations at CFH, ARMS2 and C3."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.org/dc/terms/identifier | "doi:10.1038/gene.2010.39"xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Joshi T."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Klein R."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Wang Y."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Igo R.P. Jr."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Lee K.E."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Hagstrom S.A."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Pauer G.J."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Tian L."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Henning A.K."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Peachey N.S."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Francis P.J."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Klein M.L."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Xi Q."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Sturgill G.M."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Chew E.Y."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "SanGiovanni J.P."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Iyengar S.K."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Klein B.E."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Kopplin L.J."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/author | "Sivakumaran T.A."xsd:string |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20861866 | http://purl.uniprot.org/core/name | "Genes Immun"xsd:string |