title: ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy.
abstract: OBJECTIVE
  To determine the characteristics of the polymorphisms in the ARMS2 gene in Japanese patients with age-related macular degeneration (AMD) and those with polypoidal choroidal vasculopathy (PCV) and in healthy controls, and also to show possible associations of the polymorphisms with the disease.
  
  
  METHODS
  Case-control association study.
  
  
  METHODS
  Fifty-six unrelated Japanese individuals with AMD, 55 with PCV, and 77 controls were studied. The most common polymorphism in the ARMS2 gene on chromosome 10 was resequenced. Association tests were performed for inferred haplotypes.
  
  
  RESULTS
  A total of 22 polymorphisms were identified, and 13 were shared with those in White persons with AMD. The sequence of the deletion-and-insertion polymorphism, de1443ins54, a functional polymorphism causing an instability of the messenger ribonucleic acid of ARMS2 in the Japanese, did not differ from that in White persons. Among the polymorphisms seen in the White population, rs10490923 (R3H) as well as 7 other polymorphisms were not observed in the Japanese. One haplotype, which contained the T allele of the rs10490924 (A69S) and the variant of de1443ins54 polymorphism, had an odds ratio of 3.14 (P = 7.8 x 10(-6)) for AMD and 2.00 (P = .0058) for PCV. Among the 9 polymorphisms that were unique to the Japanese population, 2 had a minor allelic frequency of more than 0.05, and these 2 polymorphism were included as nonrisk haplotypes.
  
  
  CONCLUSIONS
  The de1443ins54 polymorphism is a common variant between White and Japanese populations. It is strongly associated not only with AMD but also with PCV.
authors.affiliation: Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.forename: Hideo
authors.initials: H
authors.lastname: Nakanishi
authors.forename: Hisako
authors.initials: H
authors.lastname: Hayashi
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamada
authors.forename: Atsushi
authors.initials: A
authors.lastname: Otani
authors.forename: Akitaka
authors.initials: A
authors.lastname: Tsujikawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamashiro
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tamura
authors.forename: Masaaki
authors.initials: M
authors.lastname: Saito
authors.forename: Kuniharu
authors.initials: K
authors.lastname: Saito
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Iida
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Matsuda
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002829:Choroid / Q000098:blood supply*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D004396:Coloring Agents; D017931:DNA Primers / Q000737:chemistry; D005122:Exudates and Transudates; D005260:Female; D005451:Fluorescein Angiography; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007208:Indocyanine Green; D007564:Japan / Q000453:epidemiology; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D016491:Peripheral Vascular Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: C514392:ARMS2 protein, human; D004396:Coloring Agents; D017931:DNA Primers; D011506:Proteins; D007208:Indocyanine Green