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, Ming-Tseh Lin, W. Y. Shau, S. M. Chaung, P. J. Martin, J. A. Hansen

Research output: Contribution to journalArticle

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

Fingerprint

Interleukin-1 Receptors
Interleukin-1
Introns
Single Nucleotide Polymorphism
Alleles
Minisatellite Repeats
Genes
Nucleotides
North America
Taiwan
Haplotypes
Autoimmune Diseases
Stomach Neoplasms
Chronic Disease
Genotype
human IL1R2 protein

Keywords

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

ASJC Scopus subject areas

  • Immunology
  • Cell Biology

Cite this

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. / Tseng, L. H.; Chen, P. J.; Lin, Ming-Tseh; Shau, W. Y.; Chaung, S. M.; Martin, P. J.; Hansen, J. A.

In: Tissue Antigens, Vol. 57, No. 4, 2001, p. 318-324.

Research output: Contribution to journalArticle

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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.",
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