Complement factor H variant increases the risk of age-related macular degeneration

Jonathan L. Haines, Michael A. Hauser, Silke Schmidt, William K Scott, Lana M. Olson, Paul Gallins, Kylee L. Spencer, Ying Kwan Shu, Maher Noureddine, John Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A. Postel, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

1852 Citations (Scopus)

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 languageEnglish
Pages (from-to)419-421
Number of pages3
JournalScience
Volume308
Issue number5720
DOIs
StatePublished - Apr 15 2005
Externally publishedYes

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Complement Factor H
Macular Degeneration
Haplotypes
Vision Disorders
Blindness
Single Nucleotide Polymorphism
Chromosomes
Odds Ratio
DNA
Genes

ASJC Scopus subject areas

  • General

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 journalArticle

Haines, JL, Hauser, MA, Schmidt, S, Scott, WK, Olson, LM, Gallins, P, Spencer, KL, Shu, YK, Noureddine, M, Gilbert, J, Schnetz-Boutaud, N, Agarwal, A, Postel, EA & Pericak-Vance, MA 2005, 'Complement factor H variant increases the risk of age-related macular degeneration', Science, vol. 308, no. 5720, pp. 419-421. 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):419-421. https://doi.org/10.1126/science.1110359
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. / Complement factor H variant increases the risk of age-related macular degeneration. In: Science. 2005 ; Vol. 308, No. 5720. pp. 419-421.
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