Identification of two novel single nucleotide polymorphisms in the promoter of the human interleukin-18 receptor alpha.
Single-strand conformational polymorphism (SSCP) was used to identify single nucleotide polymorphisms (SNPs) in the promoter region of the human interleukin-18 receptor alpha (IL-18Ralpha). Two SNPs were identified at positions -69 and -638 relative to the transcriptional start site. Two-way comparison of the two SNPs revealed strong linkage disequilibrium (chi2 = 63.45, P < 0.001). Three haplotypes were identified, namely C-69C-638, T-69C-638 and C-69T-638, with frequencies of 0.26, 0.39 and 0.35, respectively.
Department of Pathology and Microbiology, University of Bristol, Cotham, Bristol, UK. s.pinto-cardoso@bristol.ac.uk
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Cardoso
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Keen
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Bidwell
D000483:Alleles; D019281:Dimerization; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D053727:Interleukin-18 Receptor alpha Subunit; D015810:Linkage Disequilibrium; D009154:Mutation; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D018123:Receptors, Interleukin / Q000235:genetics*; D053724:Receptors, Interleukin-18; D017422:Sequence Analysis, DNA
C508572:IL18R1 protein, human; D053727:Interleukin-18 Receptor alpha Subunit; D018123:Receptors, Interleukin; D053724:Receptors, Interleukin-18