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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-18 promoter polymorphism in patients with atopic asthma
A Pawlik1, M Kaminski, P Kuśnierczyk
1Department of Pharmacokinetics and Therapeutic Drug Monitoring, Pomeranian Medical University, ul.Polst.Wlkp. 72, 70-111 Szczecin, Poland. pawand@poczta.onet.pl
Interleukin-18 (IL-18) promoter gene variations were studied in allergic asthma patients. The -137 G allele and C-G/C-G diplotype are linked to severe allergic asthma, not general susceptibility.
Area of Science:
- Immunogenetics
- Respiratory Medicine
Background:
- Allergic asthma is a chronic inflammatory condition where Interleukin-18 (IL-18) is implicated.
- Previous research on IL-18 promoter polymorphisms as markers for asthma susceptibility remains inconclusive.
Purpose of the Study:
- To investigate the association between IL-18 promoter gene polymorphisms (-137 and -607) and allergic asthma in a Polish population.
- To determine if specific IL-18 promoter genotypes, alleles, diplotypes, or haplotypes correlate with asthma severity.
Main Methods:
- Analysis of 231 allergic asthma patients diagnosed via NHLBI/WHO guidelines.
- Utilized allele-specific polymerase chain reaction to examine IL-18 gene promoter polymorphisms at positions -137 and -607.
- Compared genotype, allele, diplotype, and haplotype frequencies between asthma patients and controls, and across asthma severity groups.
Main Results:
- No significant differences in IL-18 promoter polymorphism frequencies were found between the overall asthma group and controls.
- Patients with severe asthma showed a higher prevalence of -607 CC and -137 GG genotypes compared to controls.
- The -137 CC genotype was more common in mild to moderate asthma patients.
- Significant differences in -137 allele frequencies were observed between mild-to-moderate and severe asthma groups (P = 0.006).
Conclusions:
- IL-18 promoter polymorphisms at -607 and -137 do not appear to be independent markers for general allergic asthma susceptibility.
- The -137 G allele and the C-G/C-G diplotype are potentially associated with the pathogenesis of severe allergic asthma.
- Further research is warranted to elucidate the specific role of IL-18 in severe asthma development.
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