Association of the CTLA4 3' untranslated region polymorphism with the susceptibility to rheumatoid arthritis

Hum Immunol. 2002 Jan;63(1):76-81. doi: 10.1016/s0198-8859(01)00358-5.

Abstract

Cytotoxic T-lymphocyte antigen 4 (CTLA4) gene polymorphism located in the 3' untranslated region (UTR) was investigated in 141 Spanish patients (38 men and 103 women) with rheumatoid arthritis (RA) and in 194 ethnically-matched healthy controls. Twenty alleles having different numbers of (AT) repeats (from 7 to 32) were found in this population. (AT)7 and (AT)16 were the most frequent alleles, and accounted for almost two-thirds of the allelic frequency in the control population. Consequently, alleles were assigned as L (large: 16 or more AT repeats) or S (short: less than 16 AT repeats). When the L/S distribution in patients and controls were compared, an increase of L alleles was observed among patients (49.9% vs. 39.7%; p = 0.02; p(c) = 0.04, odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.06-2.01). Hence, the frequency of S alleles was decreased among patients (51.1% vs. 60.3%; p = 0.02; p(c) = 0.04; OR = 0.69; 95%CI, 0.50-0.95). Moreover, a statistically significant decrease in the frequency of S/S individuals was observed among RA patients (27.7% versus 40.7%; p = 0.01; p(c) = 0.03; OR = 0.56; 95%CI, 0.34-0.91). These differences were irrespective of the HLA "shared epitope" (SE) status, and were observed similarly among SE+ as well as among SE- patients. After combining these data with other reported previously by us, from studies of CTLA4 49 (A/G) and -318 (C/T) polymorphisms, we conclude that the strongest association between CTLA4 gene polymorphisms and RA susceptibility occurs with the 3' UTR polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions
  • Abatacept
  • Alleles
  • Antigens, CD
  • Antigens, Differentiation / genetics*
  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / immunology*
  • CTLA-4 Antigen
  • Case-Control Studies
  • Dinucleotide Repeats
  • Female
  • Gene Frequency
  • Humans
  • Immunoconjugates*
  • Male
  • Minisatellite Repeats
  • Polymorphism, Genetic*
  • Spain

Substances

  • 3' Untranslated Regions
  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Immunoconjugates
  • Abatacept