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R. Keith Shuler Jr, MD; Michael A. Hauser, PhD; Jennifer Caldwell, COA; Paul Gallins, MS; Silke Schmidt, PhD; William K. Scott, PhD; Anita Agarwal, MD; Jonathan L. Haines, PhD; Margaret A. Pericak-Vance, PhD; Eric A. Postel, MD

Arch Ophthalmol. 2007;125(1):63-67.

Objective  To compare phenotypes of 2 age-related macular degeneration (AMD) susceptibility genes: LOC387715 and complement factor H (CFH).

Methods  Phenotypes of 755 AMD cases were characterized. The number of LOC387715 (T allele at rs10490924, or A69S) and CFH (T1277C at rs1061170, or Y402H) risk alleles were determined in each case. Individuals were divided into 5 groups by genotype: group 1, LOC–/– CFH–/–; group 2, LOC+/– CFH–/– or LOC+/+ CFH–/–; group 3, LOC–/– CFH+/– or LOC–/– CFH+/+; group 4, LOC+/– CFH+/–, LOC+/+ CFH+/–, or LOC+/– CFH+/+; and group 5, LOC+/+ CFH+/+.

Results  Signs of neovascular AMD including grade (P = .002), pigment epithelial detachment (P = .001), and subretinal hemorrhage (P<.001) demonstrated significant association with groups 2, 4, and 5 vs groups 1 and 3. Group 5 had a significantly younger mean age (72.3 years) compared with other groups (P = .002).

Conclusions  The AMD cases possessing the LOC387715 (rs10490924) variant may have a higher risk of neovascular AMD. Individuals with AMD who are homozygous for both variants might be at greater risk for earlier onset of neovascular AMD.

Author Affiliations: Eye Center (Drs Shuler and Postel and Ms Caldwell) and Center for Human Genetics (Drs Hauser, Schmidt, Scott, and Pericak-Vance and Mr Gallins), Duke University, Durham, NC; and Eye Institute (Dr Agarwal) and Medical Center, Center for Human Genetics Research (Dr Haines), Vanderbilt University, Nashville, Tenn.

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