title: Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
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.
authors: Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN Yokohama Institute, Yokohama, Japan.
authors: Satoshi
authors: S
authors: Arakawa
authors: Atsushi
authors: A
authors: Takahashi
authors: Kyota
authors: K
authors: Ashikawa
authors: Naoya
authors: N
authors: Hosono
authors: Tomomi
authors: T
authors: Aoi
authors: Miho
authors: M
authors: Yasuda
authors: Yuji
authors: Y
authors: Oshima
authors: Shigeo
authors: S
authors: Yoshida
authors: Hiroshi
authors: H
authors: Enaida
authors: Takashi
authors: T
authors: Tsuchihashi
authors: Keisuke
authors: K
authors: Mori
authors: Shigeru
authors: S
authors: Honda
authors: Akira
authors: A
authors: Negi
authors: Akira
authors: A
authors: Arakawa
authors: Kazuaki
authors: K
authors: Kadonosono
authors: Yutaka
authors: Y
authors: Kiyohara
authors: Naoyuki
authors: N
authors: Kamatani
authors: Yusuke
authors: Y
authors: Nakamura
authors: Tatsuro
authors: T
authors: Ishibashi
authors: Michiaki
authors: M
authors: Kubo
mesh_terms: D000367:Age Factors; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D016015:Logistic Models; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D057135:Wet Macular Degeneration / Q000235:genetics*