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Ophthalmic Genetics Volume 28, 2007 - Issue 4
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Research Article

LOC387715/HTRA1 and Complement Factor H Variants in Patients with Age-Related Macular Degeneration Seen at the Mayo Clinic

Jose S. Pulido Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA
,
Lisa M. Peterson Molecular Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA
,
Lejla Mutapcic Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA
,
Sandra Bryant Biostatistics, Mayo Clinic, Rochester, Minnesota, USA
&
W. Edward Highsmith Molecular Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA
Pages 203-207 | Received 27 Jul 2007, Accepted 14 Aug 2007, Published online: 08 Jul 2009
 
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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).

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