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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between interleukin-18 polymorphisms and systemic lupus erythematosus: a meta-analysis
Gwan Gyu Song1, Sung Jae Choi, Jong Dae Ji
1Division of Rheumatology, Department of Internal Medicine Korea University Anam Hospital, Korea University College of Medicine, 126-1, Anam-dong 5-ga, Seongbuk-gu, Seoul, 136-705, Korea.
Interleukin-18 (IL-18) promoter polymorphisms -607 C/A and -1297 C/T are linked to systemic lupus erythematosus (SLE) in Europeans. The -137 G/C polymorphism is associated with SLE in Asians, highlighting ethnic differences in genetic susceptibility.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a significant genetic component.
- Interleukin-18 (IL-18) is a pro-inflammatory cytokine implicated in autoimmune pathogenesis.
- Genetic variations in the IL-18 promoter region may influence disease susceptibility.
Purpose of the Study:
- To investigate the association between three functional IL-18 promoter polymorphisms (-607 C/A, -137 G/C, -1297 C/T) and SLE risk.
- To analyze these associations across different ethnic populations.
- To perform a meta-analysis to consolidate evidence from multiple studies.
Main Methods:
- A meta-analysis was conducted on published studies examining IL-18 promoter polymorphisms and SLE.
- Data were analyzed using allele contrast, recessive, dominant, and additive models.
- A total of nine studies involving 8,453 participants (2,928 SLE patients, 5,525 controls) were included.
Main Results:
- No overall association was found between the IL-18 -607 C/A polymorphism and SLE.
- However, the -607 C allele was significantly associated with increased SLE risk in Europeans.
- The IL-18 -137 G/C polymorphism showed a significant association with SLE in Asians, but not in Europeans.
- The IL-18 -1297 C allele was significantly associated with SLE in both the overall population and in Europeans.
Conclusions:
- The IL-18 -607 C/A and -1297 C/T polymorphisms are associated with SLE susceptibility in European populations.
- The IL-18 -137 G/C polymorphism is associated with SLE risk in Asian populations.
- These findings suggest ethnic-specific genetic contributions of IL-18 promoter polymorphisms to SLE development.
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