Publikationsdatum:
2005-03-12
Beschreibung:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1512523/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1512523/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- K01RR16090/RR/NCRR NIH HHS/ -- K25HG000060/HG/NHGRI NIH HHS/ -- R01EY015771/EY/NEI NIH HHS/ -- R01MH44292/MH/NIMH NIH HHS/ -- Z99 EY999999/Intramural NIH HHS/ -- ZIA EY000489-01/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2005 Apr 15;308(5720):385-9. Epub 2005 Mar 10.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15761122" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
Aged
;
Aged, 80 and over
;
Aging
;
Alleles
;
Amino Acid Substitution
;
Case-Control Studies
;
Choroid/immunology
;
Chromosomes, Human, Pair 1/genetics
;
Complement Factor H/chemistry/*genetics/physiology
;
Complement Membrane Attack Complex/analysis
;
Exons
;
Female
;
Genetic Markers
;
Genetic Predisposition to Disease
;
Genotype
;
Haplotypes
;
Histidine/genetics
;
Humans
;
Immunity, Innate
;
Introns
;
Linkage Disequilibrium
;
Macular Degeneration/*genetics
;
Male
;
Oligonucleotide Array Sequence Analysis
;
Pigment Epithelium of Eye/immunology
;
Polymorphism, Genetic
;
*Polymorphism, Single Nucleotide
;
Risk Factors
;
Smoking
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
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