• 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={J. Haines and M. Hauser and S. Schmidt and W. Scott and L. Olson and P. Gallins and K. Spencer and S. Y. Kwan and M. Noureddine and J. Gilbert and N. Schnetz-Boutaud and Anita Agarwal and E. Postel and M. Pericak-Vance},
  journal={Science},
  year={2005},
  volume={308},
  pages={419 - 421}
}

• J. Haines, M. Hauser, +11 authors M. Pericak-Vance
• Published 2005
• Biology, Medicine
• 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… Expand

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