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

doi:10.1080/13816810701649617

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

Ophthalmic Genet. 2007 Dec;28(4):203-7. doi: 10.1080/13816810701649617.

Authors

Jose S Pulido¹, Lisa M Peterson, Lejla Mutapcic, Sandra Bryant, W Edward Highsmith

Affiliation

¹ Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

PMID: 18161619
DOI: 10.1080/13816810701649617

Abstract

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).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Complement Factor H / genetics*
DNA Primers
Genetic Predisposition to Disease*
Humans
Macular Degeneration / genetics*
Minnesota
Polymerase Chain Reaction
Polymorphism, Single Nucleotide

Substances

DNA Primers
Complement Factor H