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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-6 (-636 c/g) gene polymorphism in korean children with kawasaki disease
Hye Mi Ahn1, In Sook Park, Soo-Jong Hong
1Department of Pediatrics, School of Medicine, Ewha Womans University, Seoul, Korea.
Insights
This study found no link between the IL-6 (-636 C/G) gene polymorphism and Kawasaki disease (KD) or its coronary artery lesions. Higher serum IL-6 levels were observed in KD patients with specific genotypes.
Area of Science:
- Pediatric Rheumatology
- Immunogenetics
- Cardiovascular Research
Background:
- Kawasaki disease (KD) is a vasculitis affecting children, with potential coronary artery complications.
- Elevated serum interleukin-6 (IL-6) levels correlate with fever duration in untreated KD.
- The role of IL-6 gene polymorphism in KD development remains debated.
Purpose of the Study:
- To investigate the association between the IL-6 (-636 C/G) gene polymorphism and Kawasaki disease.
- To examine the relationship between this polymorphism and coronary arterial lesions in KD patients.
- To compare serum IL-6 levels in KD patients with controls and correlate them with genotypes.
Main Methods:
- Case-control study comparing 109 KD patients with 191 children with congenital heart disease.
- Echocardiography to assess cardiac involvement in KD.
- Genotyping of IL-6 (-636 C/G) polymorphism and serum IL-6 concentration measurement.
Main Results:
- KD patients exhibited significant differences in neutrophil, platelet, liver function, total protein, and albumin levels compared to controls.
- Serum IL-6 concentrations were significantly higher in KD patients, particularly those with -636 C/G or GG genotypes.
- No association was found between IL-6 (-636 C/G) polymorphism and coronary arterial dilatation in KD.
Conclusions:
- The IL-6 (-636 C/G) gene polymorphism is not associated with the development of coronary arterial lesions in Kawasaki disease.
- Further multicenter research is needed to clarify the relationship between IL-6 gene polymorphism and KD susceptibility.
- Elevated serum IL-6 in KD patients may be linked to specific genotypes, warranting further investigation.
Background And Objectives:
Kawasaki disease (KD) is a multi-systemic vasculitis with coronary artery involvement. Serum interleukin (IL)-6 levels during acute phase showed a significant correlation with the duration of fever in patients with KD who were not treated with intravenous immunoglobulin (IVIG), suggesting that the regulation of IL-6 expression in KD patients may differ from that in normal children. However, there are controversies surrounding the association between IL-6 (-636 C/G) gene polymorphism and development of KD.
Subjects And Methods:
One hundred and nine children with KD and 191 children with congenital heart disease were included in this study. Echocardiography was performed to examine cardiac involvement in patients with KD. Genotyping of the IL-6 (-636 C/G) gene polymorphism was performed using the single-base extension method, and serum IL-6 concentrations were estimated using the sandwich enzyme immunoassay method.
Results:
Neutrophil, platelet count, liver function test, total protein and albumin concentrations were significantly different in the KD group and the serum IL-6 concentration was significantly higher in the KD group than the control group. There was no difference between the patients with coronary arterial dilatation (CAD) and those without CAD in the IL-6 (-636 C/G) polymorphism. The serum albumin concentration was significantly lower in patients with KD who had the -636 C/G or GG genotype compared with the control group. The serum IL-6 concentration was significantly higher in patients with KD who had the -636 C/G or GG genotype.
Conclusion:
There was no association between the IL-6 (-636 C/G) gene polymorphism and development of coronary arterial lesions in KD. Further multicenter studies are required to establish the relationship between the IL-6 (-636 C/G) gene polymorphism and development of KD.
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