ArticleThe British journal of ophthalmology2007
Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region.
Article in The British journal of ophthalmology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.International journal of epidemiology · 2012Pooled it
- Citrullinated and MMP-degraded vimentin is associated with chronic pulmonary diseases and genetic variants in PADI3/PADI4 and CFH in postmenopausal women.Scientific reports · 2023Article
- Predicting late-stage age-related macular degeneration by integrating marginally weak SNPs in GWA studies.Frontiers in genetics · 2023Article
- A genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Complement factor H in AMD: Bridging genetic associations and pathobiology.Progress in retinal and eye research · 2018Review
- Pharmacogenetics and age-related macular degeneration.Journal of ophthalmology · 2011Article
- C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.PloS one · 2008Article
- Progress in defining the molecular biology of age related macular degeneration.Human genetics · 2007Review
- Dopamine genes and schizophrenia: case closed or evidence pending?Schizophrenia bulletin · 2007Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
aimTo present results from a nested association study of the complement factor H (CFH) gene region using a novel methodology that uses a high-resolution genetic linkage disequilibrium map to estimate a point location for a causal mutation.
methodAge-related macular degeneration (AMD) case-control data from a genomewide single-nucleotide polymorphism (SNP) panel were used to identify the target interval to be genotyped at higher density in a second independent panel. The pattern of linkage disequilibrium (LD) and segmental duplications across this region are described in detail.
resultData were consistent with other studies in that strong association between the Y402H variant and AMD is observed. However, composite likelihood analysis, which combines association data from all SNPs in the region, and uses genetic locations on a high-resolution LD map, gave a point location for a causal variant between exons 1 and 2 of the CFH gene.
conclusionThe findings are consistent with evidence that, in addition to the widely described Y402H variant, there is at least one and, most probably, several other mutations in the CFH gene which determine disease manifestation in AMD. A genetic model in which multiple mutations contribute to a varying degree to disease aetiology has been previously well described in ophthalmic genetics, and is typified by the COL2A1 and ABCA4 genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.