A common haplotype in the complement regulatory gene factor H ( HF1/CFH ) predisposes individuals to age-related macular degeneration
Open accessAbstract
Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Our previous studies implicated activation of complement in the formation of drusen, the hallmark lesion of AMD. Here, we show that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium. Because previous linkage analyses identified chromosome 1q25-32, which harbors the factor H gene ( HF1 / CFH ), as an AMD susceptibility locus, we analyzed HF1 for genetic variation in two independent cohorts comprised of ≈900 AMD cases and 400 matched controls. We found association of eight common HF1 SNPs with AMD; two common missense variants exhibit highly significant associations (I62V, χ 2 = 26.1 and P = 3.2 × 10 -7 and Y402H, χ 2 = 54.4 and P = 1.6 × 10 -13 ). Haplotype analysis reveals that multiple HF1 variants confer elevated or reduced risk of AMD. One common at-risk haplotype is present at a frequency of 50% in AMD cases and 29% in controls [odds ratio (OR) = 2.46, 95% confidence interval (1.95-3.11)]. Homozygotes for this haplotype account for 24% of cases and 8% of controls [OR = 3.51, 95% confidence interval (2.13-5.78)]. Several protective haplotypes are also identified (OR = 0.44-0.55), further implicating HF1 function in the pathogenetic mechanisms underlying AMD. We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population.
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The Y402H variant of complement factor H is a major AMD-associated SNP.
“A major AMD-associated SNP is the Y402H (tyrosine to histidine substitution at amino acid 402) variant of complement factor H (CFH) (Edwards et al., 2005; Hageman et al., 2005; Haines et al., 2005; Klein et al., 2005).”
From Molecular pathology of age-related macular degeneration (2009) · cites this paper as Hageman et al., 2005
These CFH SNPs have been reported to be major genetic factors for developing AMD in Caucasians.
“These SNPs have been reported to be major genetic factors for developing AMD in Caucasians (Edwards et al., 2005; Hageman et al., 2005; Haines et al., 2005; Klein et al., 2005; Tuo et al., 2006).”
From Molecular pathology of age-related macular degeneration (2009) · cites this paper as Hageman et al., 2005
These findings are consistent with human AMD drusen findings and with a critical role of complement overactivity in AMD.
“These findings are consistent with findings in drusen of humans with AMD (Hageman et al., 2005), as well as the critical role in AMD of complement overactivity, which has been discussed above.”
From Molecular pathology of age-related macular degeneration (2009) · cites this paper as Hageman et al., 2005
Complement activation playing a major role in AMD pathogenesis is yet another source of inflammation.
“Complement activation playing a major role in AMD pathogenesis is yet another source of inflammation [107-110].”
From Risk mitigation of immunogenicity: a key to personalized retinal gene therapy (2021) · cites this paper as [107]
Polymorphisms in human complement regulatory factor H (CFH) predispose individuals to AMD.
“Polymorphisms in human complement regulatory factor H (CFH) predispose individuals to AMD [35, 46, 59]”
From Fecal microbiota transfer between young and aged mice reverses hallmarks of the aging gut, eye, and brain (2022) · cites this paper as [46]
Genes in the complement pathway and a region of chromosome 10 have been implicated as the major genetic contributors to AMD.
“Genes in the complement pathway4–11 and a region of chromosome 10 12,13 have now been implicated as the major genetic contributors to disease.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [10]
Conditioning on the risk alleles and examining each of the 19 implicated loci for variants with independent association resulted in identification of previously well documented independently associated variants near CFH and C2/CFB and additional independent signals near C3, CETP, LIPC, FRK/COL10A1, IER3/DDR1, RAD51B.
“This analysis resulted in the identification of the previously well documented independently associated variants near CFH and C2/CFB8,10,31,32 and of additional independent signals near C3, CETP, LIPC, FRK/COL10A1, IER3/DDR1, RAD51B (Supplementary Table 6).”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [10]
Initial reports of association between AMD and CFH included candidate gene approach, fine mapping of candidate loci, and the first successful whole-genome association study in humans, and were immediately replicated.
“Initial reports of association included candidate gene approach, fine mapping of candidate loci, and the first successful whole-genome association study in humans (40, 63, 65, 95) and were immediately replicated (175).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [63]
Several studies have found an association between advanced age-related macular degeneration and complement factor H.
“More recently, several studies have found an association between advanced age-related macular degeneration and complement factor H, an integral component of the alternative pathway of complement activation.54–65”
From Age-related macular degeneration (2008) · cites this paper as [57]
Biochemical analysis of drusen has identified complement components and inflammatory modulators.
“Biochemical analysis of drusen have indeed resulted in identification of complement components and inflammatory modulators [2–8].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [3]
CFH protein has been detected in choriocapillaris and within soft drusen.
“CFH protein has been detected in choriocapillaris and within soft drusen [3].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [3]
There is an association between the common missense variant Y402H in CFH and AMD in the United States, as reported by five groups.
“The addition of markers within the linkage peak led to recent reports by five groups that there is an association between a common missense variant (Y402H) in CFH and AMD in the United States [3,16–19].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [3]
The Y402H allele was present in at least 60% of AMD patients, with risk ratios of between 2.0 and 3.5 for one risk allele and between 3.3 and 7.4 for carriers of two risk alleles.
“The Y402H allele was present in at least 60% of AMD patients with risk ratios of between 2.0 and 3.5 for one risk allele, and with risk ratios of between 3.3 and 7.4 for carriers of two risk alleles.”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [3]
The question of how the Y402H allele contributes to the different subtypes of AMD has not been properly addressed, owing either to insufficient clinical information or to sample size, as neovascular AMD dominates the patient cohorts in most previously reported studies.
“However, the question of how the Y402H allele contributes to the different subtypes of AMD has not been properly addressed, owing either to insufficient clinical information or to sample size, as neovascular AMD dominates the patient cohorts in most previously reported studies [3,16–19].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [3]
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IRON TOXICITY AS A POTENTIAL FACTOR IN AMD
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- Authors
- Hageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M., Smith, R. J. H., Silvestri, G., Russell, S. R., Klaver, C. C. W., Barbazetto, I., Chang, S., Yannuzzi, L. A., Barile, G. R., Merriam, J. C., Smith, R. T., Olsh, A. K., Bergeron, J., Zernant, J., Merriam, J. E., Gold, B., Dean, M., & Allikmets, R.
- Affiliations
- Queen's University Belfast (GB)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2005-05-03
- Volume
- 102
- Issue
- 20
- Pages
- 7227-7232
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1088171
- OpenAlex
- W2125236492
- Cited by
- 1,961
- References
- 58
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- FWCI
- 146.43
- Type
- journal article
- Language
- en
- Open access
- green
- dx.doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- Funders
- U.S. Department of Health and Human Services
- Research to Prevent Blindness
- Retina Research Foundation
- Queen's University
- National Institutes of Health (n01co12400-79-0-22, NO1-CO12400)
- National Eye Institute (EY11515, R01EY013435, EY-13435, R01EY011521, EY 11-521, R01EY011527, R01EY011515, EY11527)
- National Cancer Institute (N01CO12400, N01-CO-012400)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
- Keywords
- age-related macular degeneration, complement factor H, complement regulatory proteins, alternative complement pathway, drusen, retinal pigment epithelium, haplotype association, single nucleotide polymorphisms, genetic susceptibility, missense mutations, complement activation
- MeSH terms
- Aged, Aged, 80 and over, DNA Mutational Analysis, Genotype, Haplotypes, Humans, Immunohistochemistry, Macular Degeneration, Middle Aged, Pigment Epithelium of Eye, Risk Factors, Genetic Variation, Odds Ratio, Complement Factor H, Mutation, Missense, Polymorphism, Single Nucleotide, Gene Components, White People
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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