Case–control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)
✍ Scribed by Sheila A. Fisher; Andrea Rivera; Lars G. Fritsche; Claudia N. Keilhauer; Peter Lichtner; Thomas Meitinger; Günther Rudolph; Bernhard H.F. Weber
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 503 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
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 singlegene trait, appears to occur in our control cohort as a low-frequency polymorphism with an allele frequency of approximately 0.