Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Altersabhängige Makulopathie-Neigung-Protein 2

Mutationen im ARMS2-Gen werden mit der altersabhängigen Makuladegeneration in Zusammenhang gebracht.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Altersabhängige Makuladegeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2

Referenzen:

1.

Maller J et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

[^]
2.

Bergeron-Sawitzke J et al. (2009) Multilocus analysis of age-related macular degeneration.

[^]
3.

Majewski J et al. (2003) Age-related macular degeneration--a genome scan in extended families.

[^]
4.

Seddon JM et al. (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.

[^]
5.

Weeks DE et al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.

[^]
6.

Jakobsdottir J et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.

[^]
7.

Kenealy SJ et al. (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

[^]
8.

Fisher SA et al. (2005) Meta-analysis of genome scans of age-related macular degeneration.

[^]
9.

Rivera A et al. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

[^]
10.

Schmidt S et al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

[^]
11.

Conley YP et al. (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.

[^]
12.

Dewan A et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration.

[^]
13.

Schaumberg DA et al. (2007) A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors.

[^]
14.

Kanda A et al. (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

[^]
15.

Fritsche LG et al. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

[^]
16.

Francis PJ et al. (2008) Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.

[^]
17.

Ho L et al. (2011) Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study.

[^]
18.

Fritsche LG et al. (2013) Seven new loci associated with age-related macular degeneration.

[^]
19.

OMIM.ORG article

Omim 611313 [^]
20.

NCBI article

NCBI 387715 [^]
Update: 9. Mai 2019