ArticleInvestigative ophthalmology & visual science2014
Rare complement factor H variant associated with age-related macular degeneration in the Amish.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.Human molecular genetics · 2016Pooled it
- Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.Scientific reports · 2016Trial
- A longitudinal study of age-related traits and cognitive function: The Collaborative Amish Aging and Memory Project (CAAMP).medRxiv : the preprint server for health sciences · 2026Article
- Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2023Article
- Geographic atrophy: pathophysiology and current therapeutic strategies.Frontiers in ophthalmology · 2023Review
- Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.Investigative ophthalmology & visual science · 2022Article
- The genetic architecture of Alzheimer disease risk in the Ohio and Indiana Amish.HGG advances · 2022Article
- Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2022Article
- Genetic Risk in Families with Age-Related Macular Degeneration.Ophthalmology science · 2021Article
- 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.American journal of human genetics · 2021Article
- The GGLEAM Study: Understanding Glaucoma in the Ohio Amish.International journal of environmental research and public health · 2021Article
- Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.Human molecular genetics · 2020Article
- Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.Nature communications · 2020Article
- Genetic Risk Scores.Current protocols in human genetics · 2019Review
- Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.Genes · 2019Article
- Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.Human genetics · 2019Article
- Exome sequencing in families with chronic central serous chorioretinopathy.Molecular genetics & genomic medicine · 2019Article
- Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2019Article
- Classical and alternative complement activation on photoreceptor outer segments drives monocyte-dependent retinal atrophy.Scientific reports · 2018Article
- Genetics and genetic testing for age-related macular degeneration.Eye (London, England) · 2018Review
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
purposeAge-related macular degeneration is the leading cause of blindness among the adult population in the developed world. To further the understanding of this disease, we have studied the genetically isolated Amish population of Ohio and Indiana.
methodsCumulative genetic risk scores were calculated using the 19 known allelic associations. Exome sequencing was performed in three members of a small Amish family with AMD who lacked the common risk alleles in complement factor H (CFH) and ARMS2/HTRA1. Follow-up genotyping and association analysis was performed in a cohort of 973 Amish individuals, including 95 with self-reported AMD.
resultsThe cumulative genetic risk score analysis generated a mean genetic risk score of 1.12 (95% confidence interval [CI]: 1.10, 1.13) in the Amish controls and 1.18 (95% CI: 1.13, 1.22) in the Amish cases. This mean difference in genetic risk scores is statistically significant (P = 0.0042). Exome sequencing identified a rare variant (P503A) in CFH. Association analysis in the remainder of the Amish sample revealed that the P503A variant is significantly associated with AMD (P = 9.27 × 10(-13)). Variant P503A was absent when evaluated in a cohort of 791 elderly non-Amish controls, and 1456 non-Amish cases.
conclusionsData from the cumulative genetic risk score analysis suggests that the variants reported by the AMDGene consortium account for a smaller genetic burden of disease in the Amish compared with the non-Amish Caucasian population. Using exome sequencing data, we identified a novel missense mutation that is shared among a densely affected nuclear Amish family and located in a gene that has been previously implicated in AMD risk.
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