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Updated: Sep 13, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic variations in interleukin-17 gene: a review on SNP rs2275913 and its clinical implications
Rasmita Khatonier1, Abdul Mabood Khan2
1Centre for Biotechnology and Bioinformatics, Dibrugarh University, Assam, India.
Abstract:
Genetic polymorphisms contribute significantly to the wide range of phenotypic diversity and varying disease susceptibility across the human population. Identifying genetic predispositions to diseases can aid in early prevention and treatment strategies. The pro-inflammatory cytokine IL-17 plays a crucial role in several clinical conditions, underscoring the importance of exploring its genetic structure. Cytokines, which regulate the immune system in various ways, are implicated in the pathophysiology of both communicable and non-communicable diseases. This review examines the impact of the SNP rs2275913 in the IL-17 gene on different diseases across diverse global populations. A comprehensive search of electronic databases, including PubMed, Google Scholar, and SNPedia, was conducted to explore studies on polymorphisms. Notably, genetic polymorphisms that affect one population may not be associated with others, and an SNP allele linked to disease progression in one group might act as a protective factor in another. Since most SNPs are known to influence gene expression, protein stability, localization, and function, their influence on cytokine protein levels may regulate the likelihood of disease development. Gene expression is regulated by a complex network of transcriptional activators and repressors, and SNPs can alter this regulation, leading to individual variations. Variations in cytokine genes, such as IL-17, can affect immune response pathways, thereby influencing both disease susceptibility and resistance.
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