Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Age-related maculopathy susceptibility protein 2

Mutations in the ARMS2 gene have been associated with age-related macular degeneration.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Age-related macula degeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2

References:

1.

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

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2.

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

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3.

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.

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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.

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

OMIM.ORG article

Omim 611313 external link
20.

NCBI article

NCBI 387715 external link
21.

Wikipedia article

Wikipedia EN (ARMS2) external link
Update: Aug. 14, 2020
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