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

Dennis W. Schultz; Richard G. Weleber; Gus Lawrence; Sandra Barral; Jacek Majewski; Ted S. Acott; Michael L. Klein

doi:10.1080/13816810590968023

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

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

Ophthalmology

Research output: Contribution to journal › Review article › peer-review

36 Scopus citations

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 language	English (US)
Pages (from-to)	101-105
Number of pages	5
Journal	Ophthalmic Genetics
Volume	26
Issue number	2
DOIs	https://doi.org/10.1080/13816810590968023
State	Published - Jun 2005

Keywords

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

ASJC Scopus subject areas

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

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10.1080/13816810590968023

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

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.",

keywords = "Age-related macular degeneration, FIBULIN-6, HEMICENTIN-1, Linkage, Mutation",

author = "Schultz, {Dennis W.} and Weleber, {Richard G.} and Gus Lawrence and Sandra Barral and Jacek Majewski and Acott, {Ted S.} and Klein, {Michael L.}",

note = "Funding Information: Supported in part by The Foundation Fighting Blindness, Fight for Sight, an unrestricted grant from Research to Prevent Blindness, PHS grant 5 M01 RR000334, and NEI grants EY012203, EY010572, EY008247, and EY003279.",

year = "2005",

month = jun,

doi = "10.1080/13816810590968023",

language = "English (US)",

volume = "26",

pages = "101--105",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Aeolus Press",

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T1 - HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease

T2 - Review and perspective

AU - Schultz, Dennis W.

AU - Weleber, Richard G.

AU - Lawrence, Gus

AU - Barral, Sandra

AU - Majewski, Jacek

AU - Acott, Ted S.

AU - Klein, Michael L.

N1 - Funding Information: Supported in part by The Foundation Fighting Blindness, Fight for Sight, an unrestricted grant from Research to Prevent Blindness, PHS grant 5 M01 RR000334, and NEI grants EY012203, EY010572, EY008247, and EY003279.

PY - 2005/6

Y1 - 2005/6

N2 - 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.

AB - 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.

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KW - Mutation

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

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