Biomarkers of Age-Related Macular Degeneration (AMD): Four new obesity-related genetic loci are associated with advanced AMD

Purpose AMD is the leading cause of central blindness in the elderly in Western countries. It has a complex multifactorial etiology, including aging, genetic factors, smoking, hypertension and atherosclerosis. Moreover, obesity has been considered to increase the risk for AMD. We hypothesize that the genetic variations associated with obesity might also be involved in the pathogenesis of AMD. Methods Cross-sectional clinical data from 348 advanced AMD cases and 722 controls were collected. All subjects were over 65 years old, and without diabetes mellitus. We genotyped 40 newly associated obesity related loci using the Sequenom iPlex platform. Results Of the 40 SNPs analysed, PTBP2 (rs1555543), GNPDA2 (rs10938397), HOXC13 (rs1443512) and MAP2K5 (rs2241423) showed a nominally (P<0.05) significant association with advanced AMD in this local Finnish population. Conclusion These new findings suggest that the link between AMD and obesity could be partly explained by genetic factors. Besides providing new insights into pathogenic mechanisms of AMD, these findings may also help to reveal possible targets for therapeutic intervention and useful diagnostic biomarkers in this disease.