ArticleInvestigative ophthalmology & visual science2016
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
Article in Investigative ophthalmology & visual science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.Scientific reports · 2016Pooled it
- Extended haplotypes at the complement factor H gene locus are associated with liver transplant rejection.Hepatology communications · 2026Article
- Factor H-related 2 levels dictate FHR dimer composition.Scientific reports · 2025Article
- Complement dysregulation associated with a genetic variant in factor H-related protein 5 in atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.Nature communications · 2024Article
- The Factor H protein family: The switchers of the complement alternative pathway.Immunological reviews · 2023Review
- Genetic investigation of Nordic patients with complement-mediated kidney diseases.Frontiers in immunology · 2023Article
- Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population.Eye (London, England) · 2022Article
- Beyond the Liver: Liver-Eye Communication in Clinical and Experimental Aspects.Frontiers in molecular biosciences · 2021Review
- Comparison of histologic findings in age-related macular degeneration with RPE flatmount images.Molecular vision · 2019Article
- A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver.Scientific reports · 2018Article
- Role of the Choroid in Age-related Macular Degeneration: A Current Review.Journal of ophthalmic & vision researchReview
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeTo investigate how potentially functional genetic variants are coinherited on each of four common complement factor H (CFH) and CFH-related gene haplotypes and to measure expression of these genes in eye and liver tissues.
methodsWe sequenced the CFH region in four individuals (one homozygote for each of four common CFH region haplotypes) to identify all genetic variants. We studied associations between the haplotypes and AMD phenotypes in 2157 cases and 1150 controls. We examined RNA-seq profiles in macular and peripheral retina and retinal pigment epithelium/choroid/sclera (RCS) from eight eye donors and three liver samples.
resultsThe haplotypic coinheritance of potentially functional variants (including missense variants, novel splice sites, and the CFHR3-CFHR1 deletion) was described for the four common haplotypes. Expression of the short and long CFH transcripts differed markedly between the retina and liver. We found no expression of any of the five CFH-related genes in the retina or RCS, in contrast to the liver, which is the main source of the circulating proteins.
conclusionsWe identified all genetic variants on common CFH region haplotypes and described their coinheritance. Understanding their functional effects will be key to developing and stratifying AMD therapies. The small scale of our expression study prevented us from investigating the relationships between CFH region haplotypes and their expression, and it will take time and collaboration to develop epidemiologic-scale studies. However, the striking difference between systemic and ocular expression of complement regulators shown in this study suggests important implications for the development of intraocular and systemic treatments.
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