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 R. Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A. Postel, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

1888 Scopus citations

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

ASJC Scopus subject areas

  • General

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    Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Shu, Y. K., Noureddine, M., Gilbert, J. R., Schnetz-Boutaud, N., Agarwal, A., Postel, E. A., & 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