Single nucleotide polymorphisms in intron 2 of the human interleukin-1 receptor antagonist (IL-1Ra) gene: Further definition of the IL-1β and IL-1Ra polymorphisms in North American Caucasians and Taiwanese Chinese

L. H. Tseng, P. J. Chen, M. T. Lin, W. Y. Shau, S. M. Chaung, P. J. Martin, J. A. Hansen

Research output: Contribution to journalArticlepeer-review

Abstract

Previous studies have suggested that a variable number tandem repeat (VNTR) polymorphism in the second intron of the interleukin-1 receptor antagonist (IL-1Ra) gene and the single nucleotide polymorphisms at positions -511 and +3954 of the IL-1β gene might be associated with increased risks of chronic inflammatory diseases, autoimmune diseases and gastric cancer. In the present study, IL-1β and IL-1Ra genotypes were analyzed among Asians in Taiwan and Caucasians in North America. We identified a novel polymorphism with 3 nucleotide substitutions in the IL-1Ra VNTR 2-repeat allele. One of the substitutions corresponds with the fourth 3′ end nucleotide of the reverse primer that is often used for analysis of the IL-1Ra-associated VNTR locus. Mismatching between this primer and the 2-repeat allele can cause misleading amplification results when stringent conditions are used for annealing. The estimated haplotype frequencies of the variant IL-1 genes were significantly different between Taiwanese and Caucasians. The frequency of the pro-inflammatory IL-1Ra 2-repeat allele was significantly lower in Taiwanese than in Caucasians. In contrast, the frequencies of the pro-inflammatory IL-1β -511T allele and +3954C allele were significantly higher among Taiwanese compared with Caucasians.

Original languageEnglish (US)
Pages (from-to)318-324
Number of pages7
JournalTissue Antigens
Volume57
Issue number4
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • Caucasian
  • IL-1 receptor antagonist
  • Polymorphism
  • Taiwanese
  • VNTR

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Genetics

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