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Published on: July 14, 2016
LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo
Jose S Pulido1, Lisa M Peterson, Lejla Mutapcic
1Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
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).

