Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study
Abstract
Sibling correlations were evaluated and segregation analysis was performed on age‐dependent maculopathy scores of the right and left eyes of individuals from 564 families in the Beaver Dam Eye study. There is evidence of significant sibling correlations. The data fit a mixture of two normal distributions, especially after undergoing the Box and Cox power transformation. In each eye, the hypothesis of mendelian transmission of a major effect cannot be rejected under the τ'AB free model, but is rejected under the τ's free model. The hypothesis of a random environmental major effect is rejected. Similar major gene parameter estimates are found for both eyes. The results are consistent with a major effect accounting for 62% and 59%, in the right and left eyes, respectively, of the determination of age‐related maculopathy scores. A single major gene can account for about 89% and 97% of this variability due to a major effect, or for about 55% and 57% of the total variability, in the right and left eyes, respectively. © 1994 Wiley‐Liss, Inc.
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The contribution of genetics to AMD was documented throughout the 1990s with reports of familial aggregation, concordant phenotypes in twins, and a higher risk of disease in first-degree relatives of affected individuals.
“The contribution of genetics to AMD was carefully documented throughout the 1990s with reports of familial aggregation, concordant phenotypes in twins, and a higher risk of disease in first-degree relatives of affected individuals (69, 89, 91, 132).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [69]
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- Authors
- Heiba, I. M., Elston, R. C., Klein, B. E. K., & Klein, R.
- Affiliations
- Louisiana State University Health Sciences Center New Orleans (US)
- Louisiana State University (US)
- Corresponding author
- Elston, Robert C.
- ORCID
- Elston, Robert C.
- Venue
- Genetic Epidemiology
- Publisher
- Wiley
- Published
- 1994-01
- Volume
- 11
- Issue
- 1
- Pages
- 51-67
- ISSN
- 0741-0395 (ISSN-L)
- 1098-2272
- OpenAlex
- W1809957428
- Cited by
- 259
- References
- 34
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 1 · 2022: 8 · 2021: 5 · 2020: 4 · 2019: 3 · 2018: 2 · 2017: 3 · 2016: 8 · 2015: 3 · 2014: 4 · 2013: 12 · 2012: 7
- FWCI
- 4.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genetic Epidemiology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Public Health Service
- National Heart, Lung, and Blood Institute (HL07567, T32HL007567)
- National Eye Institute (U10 EY06594, U10EY006594)
- National Institute of General Medical Sciences (GM-28356)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Keywords
- age-related maculopathy, sibling correlation, segregation analysis, major gene hypothesis, heritability, Beaver Dam Eye Study, genetic transmission, Box-Cox transformation, twin and family studies
- MeSH terms
- Adult, Age Factors, Aged, Aged, 80 and over, Chromosome Mapping, Environment, Female, Genes, Dominant, Humans, Macular Degeneration, Male, Middle Aged, Models, Genetic, Pedigree, Regression Analysis, Severity of Illness Index, Genetic Variation, Wisconsin, Bias, Normal Distribution, Likelihood Functions
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