Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)

Sheila A. Fisher, Andrea Rivera, Lars G. Fritsche, Claudia N. Keilhauer, Peter Lichtner, Thomas Meitinger, Günther Rudolph, Bernhard H.F. Weber

Publikation: Beitrag in FachzeitschriftArtikelBegutachtung

31 Zitate (Scopus)

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 Iq32 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.G1n5346Arg 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.

OriginalspracheEnglisch
Seiten (von - bis)406-413
Seitenumfang8
FachzeitschriftHuman Mutation
Jahrgang28
Ausgabenummer4
DOIs
PublikationsstatusVeröffentlicht - Apr. 2007
Extern publiziertJa

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