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Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.

Publication ,  Journal Article
Haines, JL; Schnetz-Boutaud, N; Schmidt, S; Scott, WK; Agarwal, A; Postel, EA; Olson, L; Kenealy, SJ; Hauser, M; Gilbert, JR; Pericak-Vance, MA
Published in: Invest Ophthalmol Vis Sci
January 2006

PURPOSE: Age-related macular degeneration (AMD) is a retinal degenerative disease that is the leading cause of blindness worldwide for individuals over the age of 60. Although the etiology of AMD remains largely unknown, numerous studies have suggested that both genes and environmental risk factors significantly influence the risk of developing AMD. Identification of the underlying genes has been difficult, with both genomic screen (locational) and candidate gene (functional) approaches being used. The present study tested candidate genes for association with AMD. METHODS: Eight genes (alpha-2-macroglobulin [A2M], creatine kinase [CKB], angiotensin-converting enzyme [DCP1], interleukin-1alpha [IL1A], low-density lipoprotein receptor-related protein 6 [LRP6], microsomal glutathione-S-transferase 1 [MGST1], vascular entothelial growth factor [VEGF], and very low density lipoprotein receptor [VLDLR]) were tested for genetic linkage and allelic association, using two independent datasets: a family-based association dataset including 162 families and an independent case-control dataset with 399 cases and 159 fully evaluated controls. RESULTS: Test results suggested that genetic variation in five of these genes (IL1A, CKB, A2M, MGST1, and DCP1) is unlikely to explain a significant fraction of the risk of developing AMD in this population. LRP6 showed evidence both for linkage (heterogeneity lod [HLOD] = 1.14) in the family-based dataset and for association (P = 0.004) in the case-control dataset. VEGF showed evidence of linkage (HLOD = 1.32) and demonstrated significant independent allelic association in both the family-based (P = 0.001) and case-control (P = 0.02) datasets. VLDLR showed evidence of association in both the family based (P = 0.03) and case-control (P = 0.01) datasets. CONCLUSIONS: These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.

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Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

January 2006

Volume

47

Issue

1

Start / End Page

329 / 335

Location

United States

Related Subject Headings

  • alpha-Macroglobulins
  • Vascular Endothelial Growth Factor A
  • Risk Factors
  • Receptors, LDL
  • Polymorphism, Single Nucleotide
  • Peptidyl-Dipeptidase A
  • Pedigree
  • Ophthalmology & Optometry
  • Male
  • Macular Degeneration
 

Citation

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Haines, J. L., Schnetz-Boutaud, N., Schmidt, S., Scott, W. K., Agarwal, A., Postel, E. A., … Pericak-Vance, M. A. (2006). Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci, 47(1), 329–335. https://doi.org/10.1167/iovs.05-0116
Haines, Jonathan L., Nathalie Schnetz-Boutaud, Silke Schmidt, William K. Scott, Anita Agarwal, Eric A. Postel, Lana Olson, et al. “Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.Invest Ophthalmol Vis Sci 47, no. 1 (January 2006): 329–35. https://doi.org/10.1167/iovs.05-0116.
Haines JL, Schnetz-Boutaud N, Schmidt S, Scott WK, Agarwal A, Postel EA, et al. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):329–35.
Haines, Jonathan L., et al. “Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.Invest Ophthalmol Vis Sci, vol. 47, no. 1, Jan. 2006, pp. 329–35. Pubmed, doi:10.1167/iovs.05-0116.
Haines JL, Schnetz-Boutaud N, Schmidt S, Scott WK, Agarwal A, Postel EA, Olson L, Kenealy SJ, Hauser M, Gilbert JR, Pericak-Vance MA. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):329–335.

Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

January 2006

Volume

47

Issue

1

Start / End Page

329 / 335

Location

United States

Related Subject Headings

  • alpha-Macroglobulins
  • Vascular Endothelial Growth Factor A
  • Risk Factors
  • Receptors, LDL
  • Polymorphism, Single Nucleotide
  • Peptidyl-Dipeptidase A
  • Pedigree
  • Ophthalmology & Optometry
  • Male
  • Macular Degeneration