CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
Open accessAbstract
In developed countries, age-related macular degeneration is a common cause of blindness in the elderly. A common polymorphism, encoding the sequence variation Y402H in complement factor H (CFH), has been strongly associated with disease susceptibility. Here, we examined 84 polymorphisms in and around CFH in 726 affected individuals (including 544 unrelated individuals) and 268 unrelated controls. In this sample, 20 of these polymorphisms showed stronger association with disease susceptibility than the Y402H variant. Further, no single polymorphism could account for the contribution of the CFH locus to disease susceptibility. Instead, multiple polymorphisms defined a set of four common haplotypes (of which two were associated with disease susceptibility and two seemed to be protective) and multiple rare haplotypes (associated with increased susceptibility in aggregate). Our results suggest that there are multiple disease susceptibility alleles in the region and that noncoding CFH variants play a role in disease susceptibility.
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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 [31]
An early attempt at fine mapping the CFH region showed that more than 20 variants in and around CFH were even more strongly associated with disease than the Y402H coding variant, potentially suggesting that regulation of expression of CFH and neighboring genes, rather than alterations in the coding sequence of CFH, mediates AMD susceptibility.
“An early attempt at fine mapping the region showed that >20 variants in and around CFH were even more strongly associated with disease than was the Y402H coding variant, potentially suggesting that regulation of the expression of CFH and neighboring genes, rather than alterations in the coding sequence of CFH, mediates AMD susceptibility (97).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [97]
A single locus can contain multiple independent common risk variants; for example, seven independent alleles at 8q24 for prostate cancer, three at CFH for AMD, three at IRF5 for SLE, and two at IL23R for Crohn's disease.
“5) A single locus can contain multiple independent common risk variants. Intensive study has already identified seven independent alleles at 8q24 for prostate cancer (92), three at complement factor H (CFH) for age-related macular degeneration (93, 94), three at IRF5 for systemic lupus erythematosus (95), and two at IL23R for Crohn’s disease (96).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [94]
Searches have not yet found much evidence for epistasis.
“Although searches have not yet found much evidence for epistasis [e.g., (93, 94, 135)]”
From Genetic Mapping in Human Disease (2008) · cites this paper as [94]
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- Authors
- Li, M., Atmaca-Sonmez, P., Othman, M., Branham, K. E. H., Khanna, R., Wade, M. S., Li, Y., Liang, L., Zareparsi, S., Swaroop, A., & Abecasis, G. R.
- Affiliations
- University of Michigan (US)
- Corresponding author
- Swaroop, Anand
- Abecasis, Gonçalo R
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-08-27
- Volume
- 38
- Issue
- 9
- Pages
- 1049-1054
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1941700
- OpenAlex
- W2079953346
- Cited by
- 354
- References
- 32
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 3 · 2023: 2 · 2022: 9 · 2021: 9 · 2020: 6 · 2019: 4 · 2018: 6 · 2017: 6 · 2016: 12 · 2015: 17 · 2014: 12 · 2013: 29 · 2012: 19
- FWCI
- 39.93
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- Research to Prevent Blindness
- University of Michigan
- Broad Institute
- Türkiye Bilimsel ve Teknolojik Araştırma Kurumu
- National Institutes of Health
- National Eye Institute (R01EY016862)
- National Center for Research Resources
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- age-related macular degeneration, complement factor H, genetic susceptibility, single nucleotide polymorphisms, non-coding variants, rare haplotypes, protective alleles, genetic association
- MeSH terms
- Aged, Disease Susceptibility, Gene Frequency, Haplotypes, Humans, Macular Degeneration, Logistic Models, Case-Control Studies, Complement Factor H, Polymorphism, Single Nucleotide
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