The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration
Abstract
Background and Aims: Age-related macular degeneration (AMD) is the leading cause of blindness in the Western World. It is now evident that both genetic and environmental factors contribute to disease susceptibility. We tested the hypotheses that (a) a common coding SNP in the LOC387715 gene is associated with advanced AMD (geographic atrophy or choroidal neovascularization), and (b) that modifiable environmental exposures alter AMD susceptibility associated with this SNP. Methods: A case-control association analysis was performed on participants (530 advanced AMD cases and 280 controls) ascertained as part of the multi-center Age-Related Eye Disease Study. AMD status was determined by the reading center from fundus photographs using the AREDS AMD grading categorization. Environmental risk factor exposure data was collected from participants whose DNA was also genotyped for the LOC387715 gene SNP rs10490924. Multivariate logistic regression analyses were performed. Results and Conclusions: The number of risk alleles at the LOC387715 SNP was associated with advanced AMD, with odds ratios (OR) = 3.0 (95% confidence interval (CI) 2.1–4.3) for the GT heterozygous genotype and OR = 12.1 (5.6–26.5) for the homozygous TT risk genotype, after controlling for demographic and behavioral risk factors. The LOC387715 SNP was associated with both forms of advanced AMD. Current cigarette smoking and body mass index were independently related to AMD, controlling for genotype. However, there was no statistical interaction between LOC387715 genotype and smoking with regard to advanced AMD development.
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No definitive gene/gene or gene/environment interaction has yet been found for age-related macular degeneration.
“A few studies have assessed gene/gene interaction as well as gene/environment interaction.73–75 No definitive interaction has yet been found.”
From Age-related macular degeneration (2008) · cites this paper as [73]
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- Authors
- Francis, P. J., George, S., Schultz, D. W., Rosner, B., Hamon, S., Ott, J., Weleber, R. G., Klein, M. L., & Seddon, J. M.
- Affiliations
- Tufts Medical Center (US)
- Venue
- Human Heredity
- Publisher
- S. Karger AG
- Published
- 2007
- Volume
- 63
- Issue
- 3-4
- Pages
- 212-218
- ISSN
- 0001-5652 (ISSN-L)
- 1423-0062
- OpenAlex
- W1489931628
- Semantic Scholar
- b2a5ed3d17d40b549ab41108c7dd0013fb7f7c0d
- Cited by
- 91
- References
- 31
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 2 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 3 · 2015: 3 · 2014: 2 · 2013: 9 · 2012: 4
- FWCI
- 14.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Heredity (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Broad Institute
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Keywords
- age-related macular degeneration, LOC387715, rs10490924, single nucleotide polymorphisms, geographic atrophy, choroidal neovascularization, cigarette smoking, body mass index, genetic susceptibility, environmental risk factors, gene-environment interaction, AREDS
- MeSH terms
- Aged, Aged, 80 and over, Aging, Environment, Female, Genotype, Heterozygote, Humans, Macular Degeneration, Male, Middle Aged, Proteins, Risk Factors, Smoking, Cohort Studies, Body Mass Index, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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