Fisher, Sheila A. and Rivera, Andrea and Fritsche, Lars G. and Keilhauer, Claudia N. and Lichtner, Peter and Meitinger, Thomas and Rudolph, Guenther and Weber, Bernhard H. F. (2007) Case-control genetic association study of fibullin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). HUMAN MUTATION, 28 (4). pp. 406-413. ISSN 1059-7794, 1098-1004
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | COMPLEMENT FACTOR-H; BEAVER DAM EYE; SUSCEPTIBILITY LOCI; GENOMEWIDE-SCAN; FAMILIAL AGGREGATION; EXTENDED FAMILIES; MACULOPATHY; RISK; POLYMORPHISM; POPULATION; age-related macular degeneration; fibulin-6; hemicentin-1; association; linkage disequilibrium; mutation; FBLN6; HMCN1 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 16 Dec 2020 10:11 |
| Last Modified: | 16 Dec 2020 10:11 |
| URI: | https://pred.uni-regensburg.de/id/eprint/32949 |
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