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Updated: Aug 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Identification of two novel single nucleotide polymorphisms in the promoter of the human interleukin-18 receptor
S P Cardoso1, L Keen, J Bidwell
1Department of Pathology and Microbiology, University of Bristol, Cotham, Bristol, UK. s.pinto-cardoso@bristol.ac.uk
Abstract:
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.
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