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＜Doctoral Thesis＞
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population
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| Abstract | Age-related macular degeneration (AMD), the leading cause of irreversible blindness in the world, is a complex disease caused by multiple environmental and genetic risk factors. To identify genetic fa...ctors that modify the risk of exudative AMD in Japanese, we conducted a GWAS and a replication study using a total of 1,536 cases with exudative AMD and 18,894 controls. In addition to CFH (rs800292, P = 4.23 × 10^-15) and ARMS2 (rs3750847, P = 8.67 × 10^-29) loci, we identified two new susceptibility loci for exudative AMD : TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10^-12, OR = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10^-8, OR = 1.30). Fine mapping revealed that rs13278062, which is known to alter TNFRSF10A transcriptional activity, showed the most significant association in 8p21 region. Our results provide new insights into the pathophysiology of exudative AMD.show more |
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| Created Date | 2013.07.12 |
| Modified Date | 2023.12.08 |