title: Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus.
abstract: OBJECTIVE
  differentiate the associations of exudative age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) with the ARMS2/HTRA1 locus.
  
  
  METHODS
  The entire ARMS2 sequence was sequenced and HTRA1 rs11200638 genotyped in 568 unrelated Chinese individuals: 156 exudative AMD patients, 164 PCV patients, and 248 controls. A meta-analysis was performed to examine the effects of rs10490924 and rs11200638 at the ARMS2/HTRA1 locus in PCV.
  
  
  RESULTS
  In total, 31 polymorphisms in ARMS2 were identified. Significant associations with both exudative AMD and PCV were observed in 11 of them and HTRA1 rs11200638, with different genotypic distributions between exudative AMD and PCV (P < 0.001). After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AMD (P = 0.011), but not with PCV (P = 0.077). Meta-analysis showed consistent allelic associations of rs10490924 and rs11200638 with PCV in different study populations.
  
  
  CONCLUSIONS
  There is a strong and consistent association of the ARMS2/HTRA1 locus with both exudative AMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. Different effect sizes indicate the existence of additional genetic and environmental factors affecting them to different extents.
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Xiao Ying
authors.initials: XY
authors.lastname: Liang
authors.forename: Timothy Y Y
authors.initials: TY
authors.lastname: Lai
authors.forename: David T L
authors.initials: DT
authors.lastname: Liu
authors.forename: Alex H
authors.initials: AH
authors.lastname: Fan
authors.forename: Li Jia
authors.initials: LJ
authors.lastname: Chen
authors.forename: Pancy O S
authors.initials: PO
authors.lastname: Tam
authors.forename: Sylvia W Y
authors.initials: SW
authors.lastname: Chiang
authors.forename: Tsz Kin
authors.initials: TK
authors.lastname: Ng
authors.forename: Dennis S C
authors.initials: DS
authors.lastname: Lam
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002829:Choroid / Q000098:blood supply / Q000378:metabolism / Q000473:pathology; D015862:Choroid Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D005838:Genotype; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008297:Male; D008875:Middle Aged; D016491:Peripheral Vascular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012697:Serine Endopeptidases / Q000235:genetics* / Q000378:metabolism; D057135:Wet Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: C514392:ARMS2 protein, human; D011506:Proteins; D004247:DNA; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases