Статья

Complement Factor H Polymorphism in Age-Related Macular Degeneration

Robert J. KleinBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USACaroline J. ZeissBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAEmily Y. ChewBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAJen-Yue TsaiBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USARichard S. SacklerBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAChad HaynesBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAAlice K. HenningBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAJohn Paul SanGiovanniBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAShrikant ManeBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USASusan T. MayneBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAMichael B. BrackenBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAFrederick L. FerrisBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAJürg OttBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAColin J. BarnstableBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USAJosephine HohBiological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USA

2005en

ABI

Аннотация

Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.

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Идентификаторы

DOI: 10.1126/science.1109557

Цитирования и источники

Цитирований: 2Использованных источников: 0

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