No evidence of association between variant rs2075650 in lipid metabolism-related locus APOE/TOMM40 and advanced age-related macular degeneration in Han Chinese population

Exp Biol Med (Maywood). 2015 Feb;240(2):230-4. doi: 10.1177/1535370214553770. Epub 2014 Oct 10.


Age-related macular degeneration (AMD) is a late-onset, neurodegenerative disease. Genes related to lipid metabolism are important in AMD pathogenesis. Recently, a variant rs2075650 located in lipid metabolism-related locus APOE/TOMM40 was identified to be associated with advanced AMD and early AMD, respectively, in two genome-wide association studies with European ancestry, while no association study between rs2075650 and overall advanced AMD in Chinese population has been conducted before. We evaluated the potential effect of this variant on advanced AMD in a Han Chinese cohort with 204 advanced AMD patients and 1536 healthy controls. The results suggested that rs2075650 was neither associated with advanced AMD in allele level (P = 0.348) nor in genotype level (P = 0.890 under additive model with age and sex adjusted). In conclusion, our study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population.

Keywords: APOE/TOMM40 locus; Age-related macular degeneration; Han Chinese population; association study; lipid metabolism-related genes.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apolipoproteins E / genetics*
  • China / ethnology
  • Cohort Studies
  • Female
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Genotype*
  • Humans
  • Macular Degeneration / ethnology
  • Macular Degeneration / genetics*
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Polymorphism, Genetic*


  • Apolipoproteins E
  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TOMM40 protein, human