Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration

Am J Ophthalmol. 2004 Oct;138(4):665-6. doi: 10.1016/j.ajo.2004.04.053.

Abstract

Purpose: To investigate the reported association of the two single-nucleotide polymorphisms (SNPs) of the paraoxonase gene (PON1), Met-Leu 55 (M55L) and Gln-Arg 192 (Q192R), in individuals of Anglo-Celtic descent who have age-related macular degeneration (AMD).

Design: Case-control association study.

Methods: Sixty-two individuals with late (end-stage) AMD and 115 control subjects (without AMD) were included in this study. The M55L and Q192R SNPs were amplified by polymerase chain reaction and genotyped, and statistical analysis was undertaken.

Results: No association of either SNP was detected in persons of Anglo-Celtic descent who had AMD, although there was a significant difference in SNP allele frequency between Anglo-Celtic and Japanese individuals.

Conclusion: The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Aryldialkylphosphatase / genetics*
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Humans
  • Macular Degeneration / enzymology*
  • Macular Degeneration / ethnology
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide / genetics*
  • Victoria / epidemiology

Substances

  • Aryldialkylphosphatase
  • PON1 protein, human