HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: Review and perspective

Dennis W. Schultz, Richard Weleber, Gus Lawrence, Sandra Barral, Jacek Majewski, Ted Acott, Michael Klein

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Age-related macular degeneration (AMD) is the most common blinding disorder in the Western world. Similar to other common diseases in which age is a risk factor (e.g., type II diabetes or Alzheimer's disease), AMD is thought to have a complex etiology. Previously, a Gln5345Arg mutation in HEMICENTIN-1 was found to segregate with AMD in a large family. However, the population frequency of this allele is inconsistent with the large proportion of families shown by linkage studies to map near this gene at 1q31. This review summarizes current knowledge regarding the role of HEMICENTIN-1 in AMD, the results of association studies for the Gln5345Arg mutation, and the linkage evidence for an AMD locus on 1q31. The data can be reconciled through proposing both additional variants in HEMICENTIN-1 and a second genetic risk factor for AMD in the region.

Original languageEnglish (US)
Pages (from-to)101-105
Number of pages5
JournalOphthalmic Genetics
Volume26
Issue number2
DOIs
StatePublished - Jun 2005

Fingerprint

Macular Degeneration
Western World
Mutation
Gene Frequency
Type 2 Diabetes Mellitus
Alzheimer Disease
Macular Degeneration, Age-Related, 6
Population
Genes

Keywords

  • Age-related macular degeneration
  • FIBULIN-6
  • HEMICENTIN-1
  • Linkage
  • Mutation

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease : Review and perspective. / Schultz, Dennis W.; Weleber, Richard; Lawrence, Gus; Barral, Sandra; Majewski, Jacek; Acott, Ted; Klein, Michael.

In: Ophthalmic Genetics, Vol. 26, No. 2, 06.2005, p. 101-105.

Research output: Contribution to journalArticle

Schultz, Dennis W. ; Weleber, Richard ; Lawrence, Gus ; Barral, Sandra ; Majewski, Jacek ; Acott, Ted ; Klein, Michael. / HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease : Review and perspective. In: Ophthalmic Genetics. 2005 ; Vol. 26, No. 2. pp. 101-105.
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