[Association of the ABCB1 gene with risk for uveal melanoma]

Arkh Patol. 2014 Mar-Apr;76(2):3-7.
[Article in Russian]

Abstract

The study investigated the association of the ABCB1 C3435T polymorphism gene with the risk for uveal melanoma (UM). Genotyping was carried out using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. All the tumors under study were histologically verified. The patients with UM were found to have a high frequency of predisposing alleles and genotypes of this polymorphism in the patients with UM. The CC genotype of the ABCB1 C3435T polymorphism was shown to be associated with the increased risk of UM (OR = 8.5; p = 7.10(-6)). A significant correlation was first found between the frequency of the CC genotype of the ABCB1 C3435T polymorphism and the height of a tumor and degree of its pigmentation (p = 0.0391 and p = 0.0381, respectively, Fisher's test). A marginal association was first shown between the CC genotype of the ABCB1 C3435T polymorphism and the vascular state and histological type.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B
  • ATP Binding Cassette Transporter, Subfamily B, Member 1 / genetics*
  • Adult
  • Aged
  • Alleles
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Melanoma / genetics*
  • Melanoma / pathology
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length / genetics
  • Risk Factors
  • Uveal Neoplasms / genetics*
  • Uveal Neoplasms / pathology

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • ATP Binding Cassette Transporter, Subfamily B, Member 1

Supplementary concepts

  • Uveal melanoma