Complement Factor H Polymorphism in Age-Related Macular Degeneration

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 ge...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 2005-04, Vol.308 (5720), p.385-389
Hauptverfasser:	Klein, Robert J, Zeiss, Caroline, Chew, Emily Y, Tsai, Jen-Yue, Sackler, Richard S, Haynes, Chad, Henning, Alice K, SanGiovanni, John Paul, Mane, Shrikant M, Mayne, Susan T, Bracken, Michael B, Ferris, Frederick L, Ott, Jurg, Barnstable, Colin, Hoh, Josephine
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Aged, 80 and over Aging Alleles Amino Acid Substitution Biological and medical sciences Blindness Care and treatment Case-Control Studies Choroid - immunology Chromosomes Chromosomes, Human, Pair 1 - genetics Complement Factor H - chemistry Complement Factor H - genetics Complement Factor H - physiology Complement Membrane Attack Complex - analysis Drusen Exons Female Genes Genetic Markers Genetic Predisposition to Disease Genomes Genotype Genotype & phenotype Genotypes Haplotypes Histidine - genetics Humans Immunity, Innate Introns Linkage Disequilibrium Macular degeneration Macular Degeneration - genetics Magnetic fields Male Medical genetics Medical sciences Older people Oligonucleotide Array Sequence Analysis Ophthalmology P values Pigment Epithelium of Eye - immunology Polymorphism Polymorphism, Genetic Polymorphism, Single Nucleotide Proteins Retinopathies Risk Factors Smoking Vision
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Beschreibung
Zusammenfassung:	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
ISSN:	0036-8075 1095-9203
DOI:	10.1126/science.1109557