rs12047098 - CFHR1 - CFHR4
Magnitude 4.5 · 1 study on file
Reported associations
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Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations - Unknown journal (n.d.) · Unknown authors · PubMed 34260948
ABSTRACT: Summary Age-related macular degeneration (AMD) is a leading cause of vision loss; there is strong genetic susceptibility at the complement factor H (CFH) locus. This locus encodes a series of complement regulators: factor H (FH), a splice variant factor-H-like 1 (FHL-1), and five factor-H-related proteins (FHR-1 to FHR-5), all involved in the regulation of complement factor C3b turnover. Little is known about how AMD-associated variants at this locus might influence FHL-1 and FHR protein concentrations. We have used a bespoke targeted mass-spectrometry assay to measure the circulating concentrations of all seven complement regulators and demonstrated elevated concentrations in 352 advanced AMD-affected individuals for all FHR proteins (FHR-1, p = 2.4 × 10−10; FHR-2, p = 6.0
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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Ophthalmology consultation for AMD risk assessment High
Variant is associated with elevated FHR-4 complement protein levels, which causally increases age-related macular degeneration risk
Discuss with ophthalmologist; establish baseline eye examination and screening schedule