TAP 2 gene Msp-I polymorphism might be associated with calcium oxalate stone disease

Urol Int. 2005;75(3):264-8. doi: 10.1159/000087806.

Abstract

Introduction: Inflammation might be one of the causes of stone disease. The function of the transporter associated with antigen-processing protein (TAP) is related to immune response and inflammation. Our aim was to investigate the relationship between stone disease and 5 polymorphic sites of the TAP gene (TAP1-1, 1-2, 2-1, 2-2, 2-3).

Materials and methods: We compared the frequencies of 5 polymorphisms in the TAP gene between 208 patients with recurrent calcium oxalate stone and 210 healthy controls. The polymorphism was detected by polymerase chain reaction-based restriction analysis.

Results: Significant differences in the frequency of the polymorphism at the TAP2-2 site were detected between normal individuals and calcium stone disease patients (p<0.0001). The distribution of the genotype AA homozygote was higher in stone patients (33.3%) than in the control group (16.3%). The odds ratio for the A allele compared with the G allele was 2.097 (95% CI 1.571-2.802).

Conclusions: We conclude that the TAP2-2 MspI polymorphism might be associated with calcium stone disease.

Publication types

  • Comparative Study

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 3
  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Aged
  • Alleles
  • Calcium Oxalate / analysis*
  • DNA / genetics*
  • Female
  • Gene Frequency
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Urinary Calculi / blood
  • Urinary Calculi / chemistry
  • Urinary Calculi / genetics*

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 3
  • ATP-Binding Cassette Transporters
  • Genetic Markers
  • TAP2 protein, human
  • Calcium Oxalate
  • DNA