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

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

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.

Original languageEnglish
Pages (from-to)406-413
Number of pages8
JournalHuman Mutation
Volume28
Issue number4
DOIs
StatePublished - Apr 2007
Externally publishedYes

Keywords

  • Age-related macular degeneration
  • Association
  • FBLN6
  • Fibulin-6
  • HMCN1
  • Hemicentin-1
  • Linkage disequilibrium
  • Mutation

Fingerprint

Dive into the research topics of 'Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)'. Together they form a unique fingerprint.

Cite this