Ethnic differences in allelic associations of the interleukin-1 gene cluster in South African patients with inflammatory bowel disease (IBD) and in control individuals

Immunogenetics. 2001;52(3-4):249-54. doi: 10.1007/s002510000265.

Abstract

The allelic frequencies of TaqI, PstI, and variable number of tandem repeat (VNTR) polymorphisms of the IL-1beta, IL-1 receptor (IL-1Re), and IL-1 receptor antagonist (IL-1Ra) respectively, were investigated in black and white patients with inflammatory bowel diseases (IBD) and compared with control individuals. Plasma concentrations of IL-1beta and IL-1Ra were also determined in these individuals. The IL-1beta TaqI(-) allele was significantly more frequent in 50 white IBD patients (60%) compared with 47 white controls (17%), and 20 black patients (20%) (P=0.00001 and P=0.0001, respectively). The IL-1Re PstI(-) allele was significantly more frequent in 20 black patients (75%) compared with 50 white patients (44%) (P=0.0001). The frequency of the IL-1Ra 240-bp allele was lower in black (12%) compared with white controls (25%), (P=0.0151), and the 410-bp allele was more frequent in black (87%) compared with white (73%) controls (P=0.0096). Linkage disequilibrium was found in black individuals homozygous for the 410-bp allele of IL-1Ra, and the PstI(-) allele of IL-1Re (84%) (P=0.0032). There was a significantly increased level of IL-1Ra in black patients compared with white patients and black controls (P=0.0006 and P=0.0008, respectively). The population differences in allelic frequencies of the IL-1 gene cluster and IL-1Ra concentrations suggest that genetic and environmental factors play an important role in susceptibility to IBD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles*
  • Black People
  • Black or African American
  • Case-Control Studies
  • Deoxyribonucleases, Type II Site-Specific
  • Ethnicity / genetics*
  • Female
  • Gene Frequency / genetics
  • Homozygote
  • Humans
  • Inflammatory Bowel Diseases / blood
  • Inflammatory Bowel Diseases / epidemiology
  • Inflammatory Bowel Diseases / genetics*
  • Interleukin-1 / blood
  • Interleukin-1 / genetics*
  • Introns / genetics
  • Linkage Disequilibrium / genetics
  • Male
  • Middle Aged
  • Minisatellite Repeats / genetics
  • Multigene Family / genetics*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Interleukin-1 / blood
  • Receptors, Interleukin-1 / genetics*
  • South Africa / epidemiology
  • White People
  • alpha 1-Antitrypsin / analysis

Substances

  • Interleukin-1
  • Receptors, Interleukin-1
  • alpha 1-Antitrypsin
  • CTGCAG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases