CFHR5

Gene

5 papers study it4 findings

See all 5

None of its findings points the other way.

  • 2 independent labs in 2 countries
  • Funders: Alnylam Pharmaceuticals and 3 more
  • 4 of 4 findings with company ties
  • Humans5

Effects

1

Photoreceptor layer outer segment thickness

upin humans1

1 study
  1. CFHR5 increases photoreceptor layer outer segment thickness in humans (+0.34 SD, p = 4 × 10−4).

    “CFHR5 rare variant burden is significantly associated with increased thickness of this retinal layer (+0.34 SD, p = 4 × 10−4, n = 45,365).”

    Humansrare variant burdenn = 45,365

    Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

    American journal of human genetics

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Associations

2

Age-related macular degeneration

downin humans2OR 0.75

2 studies
  1. CFHR5 lowers the risk of age-related macular degeneration in humans (OR = 0.75, p = 7 × 10−4).

    “CFHR5 rare variant burden significantly associates with a decreased risk of broadly defined AMD (odds ratio [OR] = 0.75, p = 7 × 10−4)”

    Humansrare variant burden

    Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

    American journal of human genetics

  2. CFHR5 lowers the risk of age-related macular degeneration in humans (OR=0.75, p=7×10 −4).

    “CFHR5 rare variant burden significantly associates with decreased risk of AMD (OR=0.75, p=7×10 −4 )”

    Humansadjusting for CFH-region variants

    Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

    medRxivPreprint

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Complement system

upin humans1

1 study
  1. CFHR5 is associated with complement system in humans.

    “Genetic reduction in FHR-5 correlates with higher preserved activities of the classical and alternative complement pathways”

    Humansgenetic reduction in FHR-5

    Loss of CFHR5 function reduces the risk for age-related macular degeneration

    medRxiv : the preprint server for health sciencesPreprint

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