Source:http://linkedlifedata.com/resource/pubmed/id/12099691
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2002-7-8
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pubmed:abstractText |
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly. We report an association between an Alu polymorphism in the angiotensin-converting enzyme (ACE) gene with the dry/atrophic form of AMD. Using the polymerase chain reaction (PCR) on genomic DNA isolated from patients with AMD (n=173), and an age-matched control population (n=189), we amplified a region polymorphic for an Alu element insertion in the ACE gene. The Alu(+/+) genotype occurred 4.5 times more frequently in the control population than the dry/atrophic AMD patient population, (p=0.004). The predominance of the Alu(+/+) genotype within the unaffected control group represents a protective insertion with respect to the human ocular disease, dry/atrophic AMD. This is the first demonstration of an Alu element insertion exerting protective effects against a known human disease.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0006-291X
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pubmed:author |
pubmed-author:AokiAnnette MAM,
pubmed-author:AtilanoShari RSR,
pubmed-author:BoyerDavid SDS,
pubmed-author:BrownDonald JDJ,
pubmed-author:CastellonRaquelR,
pubmed-author:HamdiHamdi KHK,
pubmed-author:KenneyM CristinaMC,
pubmed-author:NesburnAnthony BAB,
pubmed-author:OngJohn MJM,
pubmed-author:ReznikJacobJ,
pubmed-author:SmallKent WKW,
pubmed-author:TavisJeffrey HJH,
pubmed-author:UdarNitinN
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pubmed:copyrightInfo |
(c) 2002 Elsevier Science (USA).
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pubmed:issnType |
Print
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pubmed:day |
19
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pubmed:volume |
295
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
668-72
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12099691-Age Factors,
pubmed-meshheading:12099691-Aging,
pubmed-meshheading:12099691-Alleles,
pubmed-meshheading:12099691-Alu Elements,
pubmed-meshheading:12099691-Base Sequence,
pubmed-meshheading:12099691-Genotype,
pubmed-meshheading:12099691-Humans,
pubmed-meshheading:12099691-Macular Degeneration,
pubmed-meshheading:12099691-Molecular Sequence Data,
pubmed-meshheading:12099691-Peptidyl-Dipeptidase A,
pubmed-meshheading:12099691-Polymerase Chain Reaction,
pubmed-meshheading:12099691-Polymorphism, Genetic,
pubmed-meshheading:12099691-Sex Factors,
pubmed-meshheading:12099691-Tissue Plasminogen Activator
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pubmed:year |
2002
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pubmed:articleTitle |
Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration.
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pubmed:affiliation |
Department of Surgery, Ophthalmology Research Laboratories, Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA Medical School Affiliate, 90048, USA. hkhamdi@aol.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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