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Updated: May 5, 2026

An IL-8 Transiently Transgenized Mouse Model for the In Vivo Long-term Monitoring of Inflammatory Responses

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IL-6 polymorphisms: a useful genetic tool for inflammation research?

Patricia Woo¹, Steve E Humphries

¹Centre for Paediatric and Adolescent Rheumatology, Division of Infection and Immunity, University College London, London, United Kingdom. patricia.woo@ucl.ac.uk

The Journal of Clinical Investigation

|April 2, 2013

Summary

A gene variant (rs1800795) in the Interleukin-6 (IL-6) promoter influences gene activity and IL-6 levels. This variant is linked to systemic juvenile idiopathic arthritis (sJIA) in children.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Immunology
Molecular Biology

Background:

A novel polymorphism (G>C, rs1800795) in the Interleukin-6 (IL-6) gene promoter was identified.
The common G allele showed higher transcriptional activity and was associated with elevated serum IL-6 levels.

Purpose of the Study:

To investigate the ethnic distribution of IL-6 gene promoter alleles.
To establish disease association with the IL-6 polymorphism in systemic juvenile idiopathic arthritis (sJIA).

Main Methods:

Gene reporter assays to assess transcriptional activity.
Analysis of allele distribution across different ethnic groups.
Case-control study comparing genotype frequencies in sJIA patients and healthy controls.

Main Results:

Significant ethnic variations in allele frequencies were observed among European, African, and Asian populations.
The GG genotype of the IL-6 promoter polymorphism was significantly increased in children with sJIA compared to controls.
This association was particularly pronounced in sJIA cases under 6 years old.

Conclusions:

The IL-6 promoter polymorphism (rs1800795) is a functional variant influencing IL-6 levels.
This polymorphism is associated with an increased risk of systemic juvenile idiopathic arthritis.
The findings underscore the critical role of IL-6 in human health and disease processes.