Association between gap junction protein-alpha 8 polymorphisms and age-related cataract

Mol Biol Rep. 2011 Feb;38(2):1301-7. doi: 10.1007/s11033-010-0230-z. Epub 2010 Jun 27.

Abstract

GJA8 plays an important role in lens growth and transparency. Therefore, we hypothesized that two single nucleotide polymorphisms (SNPs) in GJA8 might be associated with age-related cataract. We investigated the SNPs rs1495960 and rs9437983 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing, in 96 age-related cataract patients, and 208 gender- and age-matched healthy controls. No significant differences between cases and controls were seen in genotype or allele distributions of rs1495960 (P > 0.05). The allele distribution of rs9437983 was different between cases and controls, but no difference was detected in its genotype distribution. Cataract patients had a significantly lower G-G haplotype frequency (4.9% vs. 15.5%, P = 0.0001), and a significantly higher G-A haplotype frequency (45.6% vs. 36.4%, P = 0.030) than controls. Limiting to nuclear cataract cases significantly increased the differences between cases and controls for G-G and G-A haplotypes. These results support that the GJA8 gene may be a novel susceptibility gene for age-related cataracts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aging
  • Alleles
  • Cataract / genetics*
  • Connexins / genetics*
  • Eye Proteins / genetics*
  • Female
  • Gap Junctions*
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide

Substances

  • Connexins
  • Eye Proteins
  • connexin 50