Complement factor H polymorphism in age-related macular degeneration

Science

Volumn 308, Issue 5720, 2005, Pages 385-389

  Klein, Robert J ^a   Zeiss, Caroline ^b   Chew, Emily Y ^c   Tsai, Jen Yue ^c   Sackler, Richard S ^a   Haynes, Chad ^a   Henning, Alice K ^d   SanGiovanni, John Paul ^c   Mane, Shrikant M ^e   Mayne, Susan T ^b   Bracken, Michael B ^b   Ferris, Frederick L ^c   Ott, Jurg ^a   Barnstable, Colin ^b   Hoh, Josephine ^b  

^a ROCKEFELLER UNIVERSITY   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

^d EMMES CORPORATION   (United States)

^e YALE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; GENES; PROTEINS;

AGE-RELATED MACULAR DEGENERATION (AMD); HEPARIN; NUCLEOTIDES; POLYMORPHISMS;

BIOMEDICAL ENGINEERING;

AMINO ACID; C REACTIVE PROTEIN; COMPLEMENT FACTOR H; HEPARIN; HISTIDINE; TYROSINE;

AGING;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME ANALYSIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE BINDING SITE; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; RETINA MACULA AGE RELATED DEGENERATION; RISK ASSESSMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL;

AGED; AGED, 80 AND OVER; AGING; ALLELES; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHOROID; CHROMOSOMES, HUMAN, PAIR 1; COMPLEMENT FACTOR H; COMPLEMENT MEMBRANE ATTACK COMPLEX; EXONS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HISTIDINE; HUMANS; IMMUNITY, NATURAL; INTRONS; LINKAGE DISEQUILIBRIUM; MACULAR DEGENERATION; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PIGMENT EPITHELIUM OF EYE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SMOKING;

EID: 20244380171     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1109557     Document Type: Article

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33. The Raymond and Beverly Sackler Fund for Arts and Sciences' generous support made this project possible. We thank Raymond Sackler, J. Sackler, and E. Vosburg for their input and encouragement We also thank AREDS participants and investigators; G. Gensler, T. Clemons, and A. Lindblad for work on the AREDS Genetic Repository; S. Westman and A. Evan for assistance with the microarrays; R. Fariss for the human retinal sections and advice on confocal microscopy; E. Johnson for assistance with immunostaining; and J. Majewski for constructive comments on the manuscript. Partially funded by NIH-K25HG000060 and NIH-R01EY015771 (J.H.), Macula Vision Research Foundation and the David Woods Kemper Memorial Foundation (C.B.), NIH-R01MH44292 (J.O.), and NIH-K01RR16090 and Yale Pepper Center for Study of Diseases in Aging (C.Z.). This work also benefited from the International HapMap Consortium making their data available prior to publication.