LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic

Jose S. Pulido, Lisa M. Peterson, Lejla Mutapcic, Sandra Bryant, W. Edward Highsmith

Research output: Contribution to journalArticle

15 Scopus citations


Purpose: To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD). Study Population: Study of 89 Caucasian patients with neovascular (exudative) AMD and 232 Caucasian controls. Methods: The Y402H variant of CFH gene and A69S variant of LOC387715/HTRA1 gene locus were examined. Results: For CFH, the odds ratio for the homozygous variant was 4.97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90).

Original languageEnglish (US)
Pages (from-to)203-207
Number of pages5
JournalOphthalmic Genetics
Issue number4
StatePublished - Oct 1 2007



  • Age-related macular degeneration
  • Association study
  • Complement H
  • Genetics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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