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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Ferris, Frederick L. Barnstable, Colin Klein, Robert J. Mane, Shrikant M. Bracken, Michael B. Haynes, Chad Sangiovanni, John Paul Tsai, Jen-yue Chew, Emily Y. Ott, Jurg Mayne, Susan T. Hoh, Josephine Zeiss, Caroline Henning, Alice K. Sackler, Richard S. |
| Description | Author Affiliation: Klein RJ ( Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.) |
| Abstract | 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. |
| ISSN | 00368075 |
| e-ISSN | 10959203 |
| Journal | Science |
| Issue Number | 5720 |
| Volume Number | 308 |
| Language | English |
| Publisher | American Association for the Advancement of Science (United States) |
| Publisher Date | 2005-04-15 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Complement Factor H Genetics Macular Degeneration Polymorphism, Single Nucleotide Aging Alleles Amino Acid Substitution Case-Control Studies Choroid Immunology Chromosomes, Human, Pair 1 Chemistry Physiology Complement Membrane Attack Complex Exons Genetic Markers Genetic Predisposition To Disease Genotype Haplotypes Histidine Immunity, Innate Introns Linkage Disequilibrium Oligonucleotide Array Sequence Analysis Pigment Epithelium Of Eye Polymorphism, Genetic Risk Factors Smoking Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | History and Philosophy of Science |
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