Purchase this article with an account.
Anna M. Blonska, Rando L. Allikmets, Joanna E. Merriam, Gaetano R. Barile, Luna Xu, Nicole M. Pumariega, Roland T. Smith; Genetic Associations Of Geographic Atrophy And Reticular Macular Disease (RMD) In Age-Related Macular Degeneration (AMD). Invest. Ophthalmol. Vis. Sci. 2011;52(14):5260.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To investigate the relationships between the two major AMD high-risk alleles in the complement factor H (CFH; Y402H, rs1061170) and age-related maculopathy susceptibility (ARMS2; A69S, rs10490924) genes, and the combined sub-phenotype of primary multilobular geographic atrophy (mGA) with RMD.
155 AMD subjects were recruited from the Columbia Macular Genetics Study. The eyes of these patients had Scanning Laser Ophthalmoscopy (SLO) images of sufficient resolution to definitively identify or exclude RMD, and all patients were genotyped for the high risk alleles. Forty-two of the patients (72 eyes) were identified from retinal images as having mGA with RMD. The remaining 113 patients were divided into two comparison groups: 1) all other patients with RMD (53 patients) and 2) all patients without RMD (60 patients).
The frequencies of the risk allele for ARMS2 were: 48% in the mGA-RMD group, 39% in group 1 and 29% in group 2. The difference between the mGA/RMD group and the non-RMD group was statistically significant (Χ2=7.37; P=0.007, OR=2.21, 95% CI [1.24;3.94)].The frequencies of the CFH 402H allele were 36% in the mGA/RMD group, 45% in group 1, and 53% in group 2. The difference between the mGA/RMD group and non-RMD group was statistically significant (Χ2=5.23; P=0.022, OR=0.52, 95% CI [0.29-0.91]
The CFH AMD risk allele 402H is not associated with the mGA/RMD phenotype. Conversely, the ARMS2 69S riskvariant is more significantly associated with the mGA/RMD phenotype than the non-RMD AMD phenotype. These data for the mGA/RMD phenotype are consistent with and further strengthen our previous findings comparing the RMD and non-RMD sub-phenotypes (Blonska et al., ARVO 2010; Smith et al, Arch Ophthal, in press).
This PDF is available to Subscribers Only