Complement factor H variant increases the risk of age-related macular degeneration.
Publication
, Journal Article
Haines, JL; Hauser, MA; Schmidt, S; Scott, WK; Olson, LM; Gallins, P; Spencer, KL; Kwan, SY; Noureddine, M; Gilbert, JR; Schnetz-Boutaud, N ...
Published in: Science
April 15, 2005
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults.
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Published In
Science
DOI
EISSN
1095-9203
Publication Date
April 15, 2005
Volume
308
Issue
5720
Start / End Page
419 / 421
Location
United States
Related Subject Headings
- Smoking
- Sequence Analysis, DNA
- Risk Factors
- Polymorphism, Single Nucleotide
- Odds Ratio
- Macular Degeneration
- Linkage Disequilibrium
- Humans
- Heparin
- Haplotypes
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Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., … Pericak-Vance, M. A. (2005). Complement factor H variant increases the risk of age-related macular degeneration. Science, 308(5720), 419–421. https://doi.org/10.1126/science.1110359
Haines, Jonathan L., Michael A. Hauser, Silke Schmidt, William K. Scott, Lana M. Olson, Paul Gallins, Kylee L. Spencer, et al. “Complement factor H variant increases the risk of age-related macular degeneration.” Science 308, no. 5720 (April 15, 2005): 419–21. https://doi.org/10.1126/science.1110359.
Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005 Apr 15;308(5720):419–21.
Haines, Jonathan L., et al. “Complement factor H variant increases the risk of age-related macular degeneration.” Science, vol. 308, no. 5720, Apr. 2005, pp. 419–21. Pubmed, doi:10.1126/science.1110359.
Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005 Apr 15;308(5720):419–421.
Published In
Science
DOI
EISSN
1095-9203
Publication Date
April 15, 2005
Volume
308
Issue
5720
Start / End Page
419 / 421
Location
United States
Related Subject Headings
- Smoking
- Sequence Analysis, DNA
- Risk Factors
- Polymorphism, Single Nucleotide
- Odds Ratio
- Macular Degeneration
- Linkage Disequilibrium
- Humans
- Heparin
- Haplotypes