title: Association of ABCG1 With Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Chinese and Japanese.
abstract: OBJECTIVE
  We investigated the association of the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene with polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD) in independent Chinese and Japanese cohorts.
  
  
  METHODS
  A total of 12 haplotype-tagging single-nucleotide polymorphisms (SNPs) and the SNP rs57137919 in the ABCG1 gene were first analyzed in a Hong Kong Chinese cohort of 235 nAMD, 236 PCV, and 365 controls, using TaqMan genotyping assays. Two SNPs (rs57137919 and rs225396) that showed a disease-association were genotyped in a Shantou Chinese cohort of 189 nAMD, 187 PCV, and 670 controls, and an Osaka Japanese cohort of 192 nAMD, 204 PCV, and 157 controls, totaling 2435 subjects. Association analysis was performed in individual cohorts, followed by a pooled analysis of the data from all three cohorts.
  
  
  RESULTS
  In the Hong Kong cohort, SNP rs57137919 was associated with PCV (odds ratio [OR] = 1.35). A tagging SNP rs225396 was associated with nAMD (OR = 1.28) and PCV (OR = 1.32). In the Osaka cohort, SNP rs225396 was associated with nAMD (OR = 1.42) and PCV (OR = 1.74). In the pooled analysis involving the 3 study cohorts, rs225396 showed an enhanced association with nAMD (P = 0.01, OR = 1.21, I2 = 14%) and PCV (P = 0.0001, OR = 1.35, I2 = 46%).
  
  
  CONCLUSIONS
  In this study, we have newly identified a haplotype-tagging SNP, rs225396, in ABCG1 to be associated with PCV and nAMD in Chinese and Japanese cohorts. This provides new evidence to support ABCG1 as a susceptibility gene for PCV and nAMD. Further replication in other populations should be warranted.
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors: Li
authors: L
authors: Ma
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China 2Shenzhen Eye Hospital & Shenzhen Key Laboratory of Ophthalmology, Shenzhen, China.
authors: Ke
authors: K
authors: Liu
authors: Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
authors: Motokazu
authors: M
authors: Tsujikawa
authors: Joint Shantou International Eye Center, Shantou, China.
authors: Haoyu
authors: H
authors: Chen
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors: Marten E
authors: ME
authors: Brelen
authors: Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
authors: Vesta C K
authors: VC
authors: Chan
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors: Timothy Y Y
authors: TY
authors: Lai
authors: Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
authors: Kaori
authors: K
authors: Sayanagi
authors: Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
authors: Chicako
authors: C
authors: Hara
authors: Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
authors: Noriyasu
authors: N
authors: Hashida
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors: Pancy O S
authors: PO
authors: Tam
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China 5Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
authors: Alvin L
authors: AL
authors: Young
authors: Joint Shantou International Eye Center, Shantou, China.
authors: Weiqi
authors: W
authors: Chen
authors: Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
authors: Kohji
authors: K
authors: Nishida
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China 4Joint Shantou International Eye Center, Shantou, China.
authors: Chi Pui
authors: CP
authors: Pang
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China 4Joint Shantou International Eye Center, Shantou, China 5Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
authors: Li Jia
authors: LJ
authors: Chen
mesh_terms: D000070998:ATP Binding Cassette Transporter, Subfamily G, Member 1 / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D000369:Aged, 80 and over; D002681:China / Q000453:epidemiology; D002829:Choroid / Q000098:blood supply*; D020256:Choroidal Neovascularization / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012160:Retina / Q000378:metabolism / Q000473:pathology*
chemical_list: C419353:ABCG1 protein, human; D000070998:ATP Binding Cassette Transporter, Subfamily G, Member 1; D004247:DNA