title: Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration.
abstract: OBJECTIVE
  Polypoidal choroidal vasculopathy (PCV) contains aneurismal morphologic and histopathologic feature and it is considered to be a possible distinct entity from neovascular age-related macular degeneration (AMD). In this study, the association of identified risk variants for intracranial aneurysm on chromosome 9p21 with PCV and neovascular AMD in a Chinese Han population was investigated.
  
  
  METHODS
  The authors genotyped rs1333040 and rs10757278 on 9p21 in 177 PCV patients, 131 neovascular AMD patients, and 182 controls using a genotyping method and direct DNA sequencing. Allele and genotypes frequencies in the PCV and neovascular AMD groups were compared with controls using a free open-source software and binary logistic regression analysis.
  
  
  RESULTS
  Rs1333040 was not associated with PCV or neovascular AMD. Rs10757278 was significantly associated with PCV [risk allele: A, P (allelic) = 0.014; odds ratio = 1.44; 95% confidence interval, 1.08-1.94], but not associated with neovascular AMD. After adjusting for sex, age, smoking status, history of hypertension, type 2 diabetes, and coronary artery disease, the odds ratio for homozygous carriers of rs10757278-A was 2.10 (95% confidence interval, 1.14-3.85) for PCV.
  
  
  CONCLUSIONS
  The rs10757278 on chromosome 9p21 is significantly associated with the risk of PCV but not with neovascular AMD in the Chinese Han population.
authors: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
authors: Xiongze
authors: X
authors: Zhang
authors: Feng
authors: F
authors: Wen
authors: Chengguo
authors: C
authors: Zuo
authors: Meng
authors: M
authors: Li
authors: Hui
authors: H
authors: Chen
authors: Kunfang
authors: K
authors: Wu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics; D015862:Choroid Diseases / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D016491:Peripheral Vascular Diseases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: D017931:DNA Primers