Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

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

References:

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.

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2.

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

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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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

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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.

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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.

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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12.

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

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13.

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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14.

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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15.

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

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16.

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

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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.

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18.

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

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Update: Sept. 26, 2018