Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

H. P.N. Scholl; B. H.F. Weber; M. M. Nöthen; T. Wienker; F. G. Holz

doi:10.1007/s00347-005-1270-y

Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

Translated title of the contribution: Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)

H. P.N. Scholl, B. H.F. Weber, M. M. Nöthen, T. Wienker, F. G. Holz

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Abstract

Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.

Translated title of the contribution	Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)
Original language	German
Pages (from-to)	1029-1035
Number of pages	7
Journal	Ophthalmologe
Volume	102
Issue number	11
DOIs	https://doi.org/10.1007/s00347-005-1270-y
State	Published - Nov 2005
Externally published	Yes

Keywords

Age-related macular degeneration
Association studies
Complement factor H
Sequence variation

ASJC Scopus subject areas

Ophthalmology

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10.1007/s00347-005-1270-y

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title = "Y402H-Polymorphismus im Komplementfaktor H und altersabh{\"a}ngige Makuladegeneration (AMD)",

abstract = "Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.",

keywords = "Age-related macular degeneration, Association studies, Complement factor H, Sequence variation",

author = "Scholl, {H. P.N.} and Weber, {B. H.F.} and N{\"o}then, {M. M.} and T. Wienker and Holz, {F. G.}",

year = "2005",

month = nov,

doi = "10.1007/s00347-005-1270-y",

language = "German",

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T1 - Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

AU - Scholl, H. P.N.

AU - Weber, B. H.F.

AU - Nöthen, M. M.

AU - Wienker, T.

AU - Holz, F. G.

PY - 2005/11

Y1 - 2005/11

N2 - Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.

AB - Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.

KW - Age-related macular degeneration

KW - Association studies

KW - Complement factor H

KW - Sequence variation

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Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

Abstract

Keywords

ASJC Scopus subject areas

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