Kaliumkanal Subfamilie T Mitglied 2
Das KCNT2-Gen welches sich unmittelbar vor dem CFH-Cluster befindet wurde mit der altersabhängigen Makuladegeneration in Zusammenhang gebracht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Bergeron-Sawitzke J et al. (2009) Multilocus analysis of age-related macular degeneration.
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2. |
Naj AC et al. (2013) Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
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3. |
Fritsche LG et al. (2013) Seven new loci associated with age-related macular degeneration.
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4. |
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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5. |
Francis PJ et al. (2008) Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.
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6. |
Fritsche LG et al. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
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7. |
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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8. |
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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9. |
Dewan A et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration.
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10. |
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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11. |
Schmidt S et al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
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12. |
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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13. |
Fisher SA et al. (2005) Meta-analysis of genome scans of age-related macular degeneration.
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14. |
Kenealy SJ et al. (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.
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15. |
Bhattacharjee A et al. (2003) Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP.
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16. |
Jakobsdottir J et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.
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17. |
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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18. |
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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19. |
Majewski J et al. (2003) Age-related macular degeneration--a genome scan in extended families.
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20. |
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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21. |
NCBI article
NCBI 343450
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22. |
OMIM.ORG article
Omim 610044
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Update: 14. August 2020