title: TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population.
abstract: OBJECTIVE
  Age-related macular degeneration (AMD) and Alzheimer disease (AD) are age-related neurodegenerative diseases that share similar environmental risk factors, cellular pathologies, and genetic backgrounds. Recently, the rs2075650 single nucleotide polymorphism in the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene was identified as a risk factor for AMD and Alzheimer disease. We aimed to examine the associations between the TOMM40 rs2075650 polymorphism and neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese population.
  
  
  METHODS
  The study consisted of 900 subjects, including 300 controls, 300 cases with nAMD, and 300 cases with PCV. Genomic DNA was extracted from venous blood leukocytes. The allelic variant of rs2075650 was determined with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Differences in the observed genotypic distributions between the case and control groups were tested using chi-square tests, with age and gender adjusted using logistic regression analysis.
  
  
  RESULTS
  The TOMM40 rs2075650 polymorphism was not statistically significantly associated with the nAMD or PCV phenotype (p>0.05). The difference remained insignificant after correction for age and gender differences based on the logistic regression models (p>0.05).
  
  
  CONCLUSIONS
  Our data provide no evidence to support an association of rs2075650 in TOMM40 with nAMD or PCV, suggesting that this gene is unlikely to be a major AMD and PCV susceptibility gene locus in the Chinese population.
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital, Beijing, China ; Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Guo
authors.forename: Haiping
authors.initials: H
authors.lastname: Li
authors.forename: Chunfang
authors.initials: C
authors.lastname: Zhang
authors.forename: Yaoyao
authors.initials: Y
authors.lastname: Sun
authors.forename: Xun
authors.initials: X
authors.lastname: Deng
authors.forename: Yujing
authors.initials: Y
authors.lastname: Bai
authors.forename: Shanshan
authors.initials: S
authors.lastname: Li
authors.forename: Min
authors.initials: M
authors.lastname: Zhao
authors.forename: Heng
authors.initials: H
authors.lastname: Miao
authors.forename: Wenzhen
authors.initials: W
authors.lastname: Yu
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.forename: Lvzhen
authors.initials: L
authors.lastname: Huang
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Li
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002681:China; D002829:Choroid / Q000098:blood supply / Q000473:pathology; D020256:Choroidal Neovascularization / Q000235:genetics*; D003710:Demography; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D008957:Models, Genetic; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C400783:TOMM40 protein, human