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Updated: Jul 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-1β and Tumor Necrosis Factor-α Gene Polymorphisms in Systemic Sclerosis
M A Hakami1, B S Alotaibi1, S S Alkhalil1
1Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Al- Quwayiyah, Shaqra University - 19254, Riyadh, Saudi Arabia.
Single-nucleotide polymorphisms (SNPs) in interleukin-1 beta (IL-1β) and tumor necrosis factor-alpha (TNF-α) genes are associated with systemic sclerosis (SSc) susceptibility. Further research is needed to confirm the role of these cytokine gene SNPs in SSc development.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Biology
Background:
- Cytokines are crucial in disease development.
- Single-nucleotide polymorphisms (SNPs) in cytokine genes may influence susceptibility to systemic sclerosis (SSc).
Purpose of the Study:
- To investigate the association between 22 SNPs in 13 cytokine genes and SSc susceptibility.
Main Methods:
- Genotyping of 22 SNPs in 13 cytokine genes from 23 SSc patients and 80 healthy volunteers.
- DNA extraction from peripheral venous blood.
- Polymerase chain reaction (PCR) with sequence-specific primers for cytokine genotyping.
- Statistical analysis to assess association with SSc susceptibility.
Main Results:
- Significant associations with SSc susceptibility were found for SNPs in IL-1β (-511 C/T and +3962 T/C) and TNF-α (-308 G/A and -238 G/A).
- No significant associations were observed for other investigated SNPs in IL-4Rα, IL-12, TGF-β1, IL-4, IL-6, and IL-10 genes.
Conclusions:
- SNPs in IL-1β and TNF-α genes may contribute to the development of SSc.
- Larger observational and experimental studies are required to validate these findings and elucidate the precise mechanisms.
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