-383 A/C tumor necrosis factor receptor 1 polymorphism and ankylosing spondylitis in Mexicans: a preliminary study

Rheumatol Int. 2012 Aug;32(8):2565-8. doi: 10.1007/s00296-011-1997-5. Epub 2011 Jul 26.

Abstract

The objective of this study was to evaluate the differences in allele and genotype frequencies of -383 tumor necrosis factor receptor 1 (TNFR1) polymorphism between ankylosing spondylitis (AS) and controls. Mexican Mestizos with AS were matched by gender, age, and ethnicity with healthy controls and compared in allele and genotype frequencies of the -383 TNFR1 polymorphism. Polymorphisms were genotyped using PCR-RFLP. The AA genotype occurred at a higher frequency in the AS group (92%) compared with controls (79%, P = 0.03). A allele was increased in AS (96% vs. 88%, P = 0.015) and was associated with genetic susceptibility for AS (odds ratio = 3.48, 95% CI = 1.23-10.61). This preliminary study is the first assessing the association of the -383 A/C TNFR1 polymorphism with AS, although it has the limitation of a small sample size. These data are of interest for the genetic epidemiology of AS in the Mexican population, requiring further investigation in other countries.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Chi-Square Distribution
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mexico / epidemiology
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Promoter Regions, Genetic
  • Receptors, Tumor Necrosis Factor, Type I / genetics*
  • Risk Assessment
  • Risk Factors
  • Severity of Illness Index
  • Spondylitis, Ankylosing / diagnosis
  • Spondylitis, Ankylosing / ethnology
  • Spondylitis, Ankylosing / genetics*
  • Spondylitis, Ankylosing / immunology

Substances

  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human