Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population

Satoshi Arakawa, Atsushi Takahashi, Kyota Ashikawa, Naoya Hosono, Tomomi Aoi, Miho Yasuda, Yuji Oshima, Shigeo Yoshida, Hiroshi Enaida, Takashi Tsuchihashi, Keisuke Mori, Shigeru Honda, Akira Negi, Akira Arakawa, Kazuaki Kadonosono, Yutaka Kiyohara, Naoyuki Kamatani, Yusuke Nakamura, Tatsuro Ishibashi, Michiaki Kubo

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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 factors that modify the risk of exudative AMD in the Japanese population, we conducted a genome-wide association study and a replication study using a total of 1,536 individuals 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, odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10 -8, odds ratio = 1.30). Fine mapping revealed that rs13278062, which is known to alter TNFRSF10A transcriptional activity, had the most significant association in 8p21 region. Our results provide new insights into the pathophysiology of exudative AMD.

Original languageEnglish
Pages (from-to)1001-1005
Number of pages5
JournalNature Genetics
Volume43
Issue number10
DOIs
Publication statusPublished - 10-2011

All Science Journal Classification (ASJC) codes

  • Genetics

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    Arakawa, S., Takahashi, A., Ashikawa, K., Hosono, N., Aoi, T., Yasuda, M., Oshima, Y., Yoshida, S., Enaida, H., Tsuchihashi, T., Mori, K., Honda, S., Negi, A., Arakawa, A., Kadonosono, K., Kiyohara, Y., Kamatani, N., Nakamura, Y., Ishibashi, T., & Kubo, M. (2011). Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nature Genetics, 43(10), 1001-1005. https://doi.org/10.1038/ng.938