Abstract
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 ∼43% of AMD in older adults.
| Original language | English |
|---|---|
| Pages (from-to) | 419-421 |
| Number of pages | 3 |
| Journal | Science |
| Volume | 308 |
| Issue number | 5720 |
| DOIs | |
| State | Published - Apr 15 2005 |
| Externally published | Yes |
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ASJC Scopus subject areas
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Cite this
Complement factor H variant increases the risk of age-related macular degeneration. / Haines, Jonathan L.; Hauser, Michael A.; Schmidt, Silke; Scott, William K; Olson, Lana M.; Gallins, Paul; Spencer, Kylee L.; Shu, Ying Kwan; Noureddine, Maher; Gilbert, John; Schnetz-Boutaud, Nathalie; Agarwal, Anita; Postel, Eric A.; Pericak-Vance, Margaret A.
In: Science, Vol. 308, No. 5720, 15.04.2005, p. 419-421.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Complement factor H variant increases the risk of age-related macular degeneration
AU - Haines, Jonathan L.
AU - Hauser, Michael A.
AU - Schmidt, Silke
AU - Scott, William K
AU - Olson, Lana M.
AU - Gallins, Paul
AU - Spencer, Kylee L.
AU - Shu, Ying Kwan
AU - Noureddine, Maher
AU - Gilbert, John
AU - Schnetz-Boutaud, Nathalie
AU - Agarwal, Anita
AU - Postel, Eric A.
AU - Pericak-Vance, Margaret A
PY - 2005/4/15
Y1 - 2005/4/15
N2 - 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 ∼43% of AMD in older adults.
AB - 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 ∼43% of AMD in older adults.
UR - http://www.scopus.com/inward/record.url?scp=20244388812&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=20244388812&partnerID=8YFLogxK
U2 - 10.1126/science.1110359
DO - 10.1126/science.1110359
M3 - Article
C2 - 15761120
AN - SCOPUS:20244388812
VL - 308
SP - 419
EP - 421
JO - Science
JF - Science
SN - 0036-8075
IS - 5720
ER -