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Javier Estrada, Alexandra Luna-Angulo, Lilliana Cortes-Ballinas, Ramón Coral-Vázquez, Alvaro Rendon, Dalia Guadarrama, Héctor Rangel-Villalobos, Juan Zenteno; Association between δ-sarcoglycan gene (SGCD) polymorphisims and age-related macular degeneration (AMD) in Mexican patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6169. doi: https://doi.org/.
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We searched for an association between the rs931798 and rs970476 polymorphisms of the SGCD gene and the occurrence of AMD, especially the advanced form. rs931798 and rs970476 are significant SNP’s (0.000369 and 0.0000720 p values, respectively) according to a re-analysis of a genome-wide association study (GWAS) to AMD. Furthermore, we studied the rs75334195, rs140616 and rs140617 SNP’s near to rs931798 and we will studied rs75722607, rs76902439 and rs78951425 SNP’s near to rs970476 in order to explore a possible AMD association.
The polymorphisms were determined with DNA from peripheral blood lymphocytes from 113 patients (68% wet form and 32% dry form) and 95 controls by automated sequencing. The significance of the polymorphisms was assessed by multiple logistic regression, producing odds ratios (ORs) and 95% confidence intervals (CIs). Haplotype analysis will be determined to look for association with AMD.
Until now we have worked with the region containing rs931798, rs75334195, rs140616 and rs140617 SNP’s in patients and controls samples. The SNP variant rs140616 A/A showed risk of dry AMD (OR=11.96 and p=0.02) . The others SNP's not showed associated to AMD and rs75334195 has not showed be polymorphic.
Genetic variation in SGCD significantly alters susceptibility to dry AMD. SGCD would be a new target of study in this significant ocular affection.
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