title: COL8A1 rs13095226 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in Chinese subjects.
abstract: OBJECTIVE
  Age-related macular degeneration (AMD) is the main cause of visual impairment and legal blindness in older individuals. COL8A1 rs13095226 variants have recently been implicated associated with neovascular age-related macular degeneration (nAMD) and Polypoidal Choroidal Vasculopathy (PCV) in American studies. The aim of this study was to investigate the association between the COL8A1 rs13095226 Polymorphism and neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in Chinese people.
  
  
  METHODS
  900 Chinese subjects-300 cases with nAMD, 300 cases with PCV and 300 controls, were enrolled in a cross-sectional observational study. The diagnoses of nAMD and PCV were confirmed by Fundus photography, Fluorescence Fundus Angiography (FFA) and Indocyanine Green Angiography (ICGA). Genomic DNA was extracted from venous blood leukocytes and genotypes of rs13095226 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Differences in allele distribution between cases and controls were tested by chi-square tests, with age and gender adjusted by logistic regression analysis.
  
  
  RESULTS
  The COL8A1 rs13095226 polymorphism was not statistically significantly different from the nAMD or PCV to the normal controls (P>0.05) in Chinese Population. The association remained insignificant after adjustment for age and gender differences (P>0.05).
  
  
  CONCLUSIONS
  This case-control study indicated that the COL8A1 rs13095226 polymorphism is not associated with nAMD or PCV, which suggesting this gene maybe not a susceptibility gene locus for nAMD or PCV in Chinese subjects.
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital Beijing, China ; Key Laboratory of Vision Loss and Restoration, Ministry of Education Beijing, China ; Beijing Key Laboratory for The Diagnosis and Treatment of Retinal and Choroid Diseases China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital Beijing, China ; Key Laboratory of Vision Loss and Restoration, Ministry of Education Beijing, China ; Beijing Key Laboratory for The Diagnosis and Treatment of Retinal and Choroid Diseases China.
authors.forename: Lvzhen
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital Beijing, China ; Key Laboratory of Vision Loss and Restoration, Ministry of Education Beijing, China ; Beijing Key Laboratory for The Diagnosis and Treatment of Retinal and Choroid Diseases China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.affiliation: Department of Clinical Epidemiology, Peking University People's Hospital Beijing, China.
authors.forename: Chunfang
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital Beijing, China ; Key Laboratory of Vision Loss and Restoration, Ministry of Education Beijing, China ; Beijing Key Laboratory for The Diagnosis and Treatment of Retinal and Choroid Diseases China.
authors.forename: Yujing
authors.initials: Y
authors.lastname: Bai
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital Beijing, China ; Key Laboratory of Vision Loss and Restoration, Ministry of Education Beijing, China ; Beijing Key Laboratory for The Diagnosis and Treatment of Retinal and Choroid Diseases China.
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002829:Choroid / Q000473:pathology; D024102:Collagen Type VIII / Q000235:genetics*; D043170:Collagen Type XVIII; D003430:Cross-Sectional Studies; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D057135:Wet Macular Degeneration / Q000175:diagnosis / Q000235:genetics*
chemical_list: C000612902:COL18A1 protein, human; D024102:Collagen Type VIII; D043170:Collagen Type XVIII
keywords: COL8A1; Neovascular age-related macular degeneration; genetics; polypoidal choroidal vasculopathy