• DOI:10.1126/SCIENCE.1110359
• Corpus ID: 32716116

Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

@article{Haines2005ComplementFH,
  title={Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration},
  author={Jonathan L. Haines and Michael A. Hauser and Silke Schmidt and William K. Scott and Lana M. Olson and Paul J. Gallins and Kylee L. Spencer and Shu Ying Kwan and Maher A. Noureddine and John R. Gilbert and Nathalie Schnetz-Boutaud and Anita Agarwal and Eric A. Postel and Margaret A. Pericak-Vance},
  journal={Science},
  year={2005},
  volume={308},
  pages={419 - 421}
}

• J. Haines, M. Hauser, +11 authors M. Pericak-Vance
• Published 15 April 2005
• Biology
• Science

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.