Source:http://linkedlifedata.com/resource/pubmed/id/17216616
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2007-4-16
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| pubmed:abstractText |
This article reports a well-powered age-related macular degeneration (AMD) case-control association study in the HMCN1 gene, showing that common variants do not account for a substantial proportion of AMD cases. Thus, the consistent linkage peak observed by several genome-wide linkage scans within the 1q32 region is unlikely to be attributed to polymorphisms at the HMCN1 locus. In addition, the analysis provides comprehensive data suggesting that low-frequency variants encoding possible functional amino acid polymorphisms in the HMCN1 gene may not contribute substantially to disease, although HMCN1 mutations may still confer disease susceptibility in a small subset of patients. Interestingly, the HMCN1 p.Gln5346Arg mutation, which is thought to be a causal mutation in a large AMD pedigree segregating the disease as a single-gene trait, appears to occur in our control cohort as a low-frequency polymorphism with an allele frequency of approximately 0.0026.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
1098-1004
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2007 Wiley-Liss, Inc.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
28
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
406-13
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| pubmed:dateRevised |
2007-5-25
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| pubmed:meshHeading |
pubmed-meshheading:17216616-Age Factors,
pubmed-meshheading:17216616-Aged,
pubmed-meshheading:17216616-Aged, 80 and over,
pubmed-meshheading:17216616-Amino Acid Sequence,
pubmed-meshheading:17216616-Case-Control Studies,
pubmed-meshheading:17216616-Conserved Sequence,
pubmed-meshheading:17216616-Cysteine Endopeptidases,
pubmed-meshheading:17216616-Extracellular Matrix Proteins,
pubmed-meshheading:17216616-Female,
pubmed-meshheading:17216616-Haplotypes,
pubmed-meshheading:17216616-Humans,
pubmed-meshheading:17216616-Immunoglobulins,
pubmed-meshheading:17216616-Macular Degeneration,
pubmed-meshheading:17216616-Male,
pubmed-meshheading:17216616-Middle Aged,
pubmed-meshheading:17216616-Molecular Sequence Data,
pubmed-meshheading:17216616-Polymorphism, Single Nucleotide,
pubmed-meshheading:17216616-Protein Structure, Tertiary,
pubmed-meshheading:17216616-Sequence Alignment
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
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| pubmed:affiliation |
Department of Medical and Molecular Genetics, Guy's King's and St Thomas' School of Medicine, King's College London, London, United Kingdom.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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