Familial aggregation of age-related macular degeneration in the Utah population
Open accessAbstract
We examined familial aggregation and risk of age-related macular degeneration in the Utah population using a population-based case-control study. Over one million unique patient records were searched within the University of Utah Health Sciences Center and the Utah Population Database (UPDB), identifying 4764 patients with AMD. Specialized kinship analysis software was used to test for familial aggregation of disease, estimate the magnitude of familial risks, and identify families at high risk for disease. The population-attributable risk (PAR) for AMD was calculated to be 0.34. Recurrence risks in relatives indicate increased relative risks in siblings (2.95), first cousins (1.29), second cousins (1.13), and parents (5.66) of affected cases. There were 16 extended large families with AMD identified for potential use in genetic studies. Each family had five or more living affected members. The familial aggregation of AMD shown in this study exemplifies the merit of the UPDB and supports recent research demonstrating significant genetic contribution to disease development and progression.
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Recurrence risks in relatives of AMD cases are increased: siblings 2.95, first cousins 1.29, second cousins 1.13, and parents 5.66.
“Recurrence risks in relatives indicate increased relative risks in siblings (2.95), first cousins (1.29), second cousins (1.13), and parents (5.66) of affected cases (Luo et al., 2008).”
From Molecular pathology of age-related macular degeneration (2009) · cites this paper as Luo et al., 2008
In a population-based study, the population-attributable risk for a positive family history of AMD was 0.34.
“The results showed that for AMD, the population-attributable risk (PAR) for a positive family history was 0.34.”
From Molecular pathology of age-related macular degeneration (2009) · cites this paper as Luo et al., 2008
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- Authors
- Luo, L., Harmon, J., Yang, X., Chen, H., Patel, S., Mineau, G., Yang, Z., Constantine, R., Buehler, J., Kaminoh, Y., Ma, X., Wong, T. Y., Zhang, M., & Zhang, K.
- Affiliations
- University of Utah (US)
- The University of Melbourne (AU)
- Corresponding author
- Zhang, Kang
- Venue
- Vision Research
- Publisher
- Elsevier BV
- Published
- 2008-02
- Volume
- 48
- Issue
- 3
- Pages
- 494-500
- ISSN
- 0042-6989 (ISSN-L)
- OpenAlex
- W2024335384
- Cited by
- 26
- References
- 49
- Citations by year
- 2025: 2 · 2024: 1 · 2020: 1 · 2019: 1 · 2016: 3 · 2015: 1 · 2014: 4 · 2013: 1 · 2012: 2
- FWCI
- 3.04
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Vision Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Health Assistance Foundation
- Ronald McDonald House Charities
- Research to Prevent Blindness
- Utah Department of Health
- Huntsman Cancer Institute
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Keywords
- age-related macular degeneration, familial aggregation, Utah Population Database, population attributable risk, kinship analysis, extended family, genetic susceptibility, Utah population
- MeSH terms
- Epidemiologic Methods, Female, Humans, Macular Degeneration, Male, Pedigree, Utah, Eye Diseases, Hereditary, Genetic Predisposition to Disease
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