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J. Zerbib, N. Leveziel, R. Reynolds, F. Richard, N. Puche, J. Kaplan, J.-M. Rozet, J. M. Seddon, E. H. Souied; rs5888 Variant of SCARB1 Gene is a Possible Susceptibility Factor for Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1277.
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Major genetic factors for age-related macular degeneration (AMD) have recently been identified as susceptibility risk factors, including variants in the CFH gene and the ARMS2 locus. Our purpose was to perform a case-control study in two populations among individuals who did not carry risk variants for CFH Y402H and LOC387715 A69S (ARMS2), called "study" individuals, in order to identify new genetic risk factors. Based on a candidate gene approach, we analyzed SNP rs5888 of the SCARB1 gene, coding for SRBI, which is involved in both lipid and lutein pathways.
This study was conducted in a French series of 1298 AMD patients and 405 controls, and in a North American series of 1257 patients with advanced AMD and 1732 controls. Among these individuals, we identified 65 French patients, 98 French controls, 85 North American patients and 338 North American controls who did not carry the CFH nor ARMS2 polymorphisms.
An association between AMD and the SCARB1 gene was suggested among the study subjects in some analyses. The genotypic distribution of the rs5888 polymorphism was significantly different between cases and controls in the French population (p<0.03). Heterozygosity at the rs5888 SNP increased risk of AMD compared to the CC genotypes in the French study population (odds ratio (OR)=2.4, CI95%: 1.0-5,6, p<0.04) and after pooling the 2 populations (OR=2.4, 95% CI: 1.4-4.4, p<0.007). Subgroup analysis in exudative forms of AMD revealed a pooled OR of 2.7 for individuals heterozygous for rs5888 (95% CI: 1.4-5.3, p<0.005).
These results suggest the possible contribution of SCARB1 as a genetic factor in AMD, and implicate a role for cholesterol and antioxidant micronutrient (lutein and vitamin E) metabolism in AMD. Additional replication studies are planned to increase the sample size and further evaluate these findings.
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