The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration

Peter J. Francis, Sarah George, Dennis W. Schultz, Bernard Rosner, Sara Hamon, Jurg Ott, Richard Weleber, Michael Klein, Johanna M. Seddon

Research output: Contribution to journalArticle

70 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)212-218
Number of pages7
JournalHuman Heredity
Volume63
Issue number3-4
DOIs
StatePublished - Mar 2007

Fingerprint

Macular Degeneration
Body Mass Index
Smoking
Genes
Single Nucleotide Polymorphism
Genotype
Geographic Atrophy
Odds Ratio
Choroidal Neovascularization
Western World
Eye Diseases
Disease Susceptibility
Environmental Exposure
Blindness
Reading
Logistic Models
Alleles
Regression Analysis
Demography
Confidence Intervals

Keywords

  • AMD
  • Environmental risk factor
  • Epidemiologic approaches
  • Gene-environment interaction
  • Genotype
  • Macular degeneration

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Francis, P. J., George, S., Schultz, D. W., Rosner, B., Hamon, S., Ott, J., ... Seddon, J. M. (2007). The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Human Heredity, 63(3-4), 212-218. https://doi.org/10.1159/000100046

The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. / Francis, Peter J.; George, Sarah; Schultz, Dennis W.; Rosner, Bernard; Hamon, Sara; Ott, Jurg; Weleber, Richard; Klein, Michael; Seddon, Johanna M.

In: Human Heredity, Vol. 63, No. 3-4, 03.2007, p. 212-218.

Research output: Contribution to journalArticle

Francis, Peter J. ; George, Sarah ; Schultz, Dennis W. ; Rosner, Bernard ; Hamon, Sara ; Ott, Jurg ; Weleber, Richard ; Klein, Michael ; Seddon, Johanna M. / The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. In: Human Heredity. 2007 ; Vol. 63, No. 3-4. pp. 212-218.
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