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DW Schultz, A Humpert, J Majewski, R Barra, M Schain, R Weleber, TS Acott, J Ott, ML Klein; Lack of an Association Between the SOD2 Ala/Val Polymorphism and Age-related Macular Degeneration (AMD) . Invest. Ophthalmol. Vis. Sci. 2002;43(13):4392.
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Purpose: An alanine at position sixteen in the signal sequence for mitochondrial superoxide dismutase (SOD2) has been reported to be associated with the exudative form of AMD in a Japanese population. Our study aimed to determine if there is an association between this polymorphism and AMD in an American population. Methods: A restriction digest of a 194 bp PCR product with Bsa WI enzyme was used to genotype the polymorphic Ala/Val site in exon 2 of SOD2. Genotypes were determined for individuals (n=94) in families (n=27) with exudative AMD and for individuals (n=37) in families (n=37) with the dry form of AMD. SOD2 genotypes were also determined for sporadic cases with wet AMD (n=81) and dry AMD (n=22), as well as for a set of control subjects (n=104). AMD phenotype was documented by fundus photography. Pearson Chi-square was used to test for deviations of allele and genotype frequencies from the null hypothesis. Results: No significant difference in the genotype or allele frequencies of the Ala/Val polymorphism in SOD2 was found between control subjects and individuals with wet or dry AMD in families, or between control subjects and wet or dry sporadic cases of AMD. Conclusion: No evidence for an association of either the wet or dry form of AMD with the Ala/Val polymorphism in SOD2 was found in either sporadic or familial cases of AMD. An association may not have been found because the effect is smaller in our population, or because it is harder to detect because of the higher frequency of the Ala allele in our population (50%) compared to the Japanese (17%).
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