title: Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration.
abstract: OBJECTIVE
  To determine whether polymorphisms in the Complement Factor H (CFH) gene and the Hemicentin-1 gene at the ARMD1 locus are associated with dry age-related macular degeneration (AMD) in Japanese patients.
  
  
  METHODS
  Clinically relevant laboratory investigation.
  
  
  METHODS
  Eighty unrelated Japanese patients with dry AMD and 196 Japanese control patients were studied. Two exons of the CFH gene and four exons of the Hemicentin-1 gene were amplified by polymerase chain reaction and sequenced directly.
  
  
  RESULTS
  For the CFH gene, the frequency of the previously reported Tyr402His variant was not significantly higher in the AMD group than in the control group (P = .31). In the Hemicentin-1 gene, three sequence alterations (Asp5088Val, IVS99-13C/T, and His5245Gln) were detected, and the originally reported Gln5346Arg was not detected.
  
  
  CONCLUSIONS
  The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.
authors.affiliation: Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan. fusen@oph.med.tohoku.ac.jp
authors.forename: Nobuo
authors.initials: N
authors.lastname: Fuse
authors.forename: Akiko
authors.initials: A
authors.lastname: Miyazawa
authors.forename: Mingge
authors.initials: M
authors.lastname: Mengkegale
authors.forename: Madoka
authors.initials: M
authors.lastname: Yoshida
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Wakusawa
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Abe
authors.forename: Makoto
authors.initials: M
authors.lastname: Tamai
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007136:Immunoglobulins; D007564:Japan / Q000453:epidemiology; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: C493495:CFH protein, human; D016326:Extracellular Matrix Proteins; C488168:HMCN1 protein, human; D007136:Immunoglobulins; D017242:Complement Factor H