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
Journal
Tissue Antigens
Journal Volume
57
Journal Issue
4
Pages
318-324
Date Issued
2001
Author(s)
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.
SDGs
Other Subjects
interleukin 1 receptor blocking agent; interleukin 1beta; article; Caucasian; Chinese; gene; gene amplification; gene frequency; gene locus; gene sequence; genotype; haplotype; human; intron; molecular cloning; nucleotide repeat; nucleotide sequence; priority journal; sequence analysis; single nucleotide polymorphism; tandem repeat; Asian Continental Ancestry Group; Base Pair Mismatch; DNA Primers; European Continental Ancestry Group; Gene Frequency; Genotype; Haplotypes; Histocompatibility Testing; Humans; Interleukin 1 Receptor Antagonist Protein; Interleukin-1; Introns; Minisatellite Repeats; North America; Polymorphism, Single Nucleotide; Receptors, Interleukin-1; Sialoglycoproteins; Taiwan
Type
journal article