G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

IL6

Interleukin 6

CHR 7
7p15.3

Overview

IL6 (Interleukin 6) is one of the most important pro-inflammatory cytokines in the human body. It orchestrates the acute inflammatory response and stimulates the production of acute-phase proteins such as CRP. In COVID-19, it is a central factor of the feared “cytokine storm.”

๐Ÿ“ Chromosomal Position

7p15.3 (Chromosome 7)

๐Ÿงฌ Gene Category

Immune System

๐Ÿ”ฌ Inheritance

Complex (polygenic)

๐Ÿ“Š Prevalence (rs1800795)

C allele: ~40-60% (population dependent)

Function & Significance

IL6 is produced by activated immune cells (T cells, macrophages) and endothelial cells. It has several critical functions:

  • Acute-Phase Reaction: Stimulates the liver to produce CRP and other inflammatory markers
  • B Cell Activation: Promotes the differentiation of B cells into antibody-producing plasma cells
  • T Cell Differentiation: Influences the balance between regulatory and inflammatory T cells
  • Systemic Inflammation: Overproduction causes fever, fatigue, and systemic symptoms

โš ๏ธ COVID-19 & Cytokine Storm

In severe COVID-19 cases, IL6 can rise dramatically and trigger a life-threatening cytokine storm. Drugs like Tocilizumab (IL6 receptor blocker) are used specifically to curb this overreaction.

๐Ÿงฌ Relevant SNPs

These genetic variants in the IL6 promoter influence how much IL6 is produced in response to inflammatory stimuli:

rs1800795
7:22725542
Allele 1

G

/

Allele 2

C

-174G>C (Main variant):
G/G: Lower IL6 baseline production
C/C: Increased IL6 production, higher CRP levels, stronger inflammatory response
G/C: Intermediate phenotype

Clinical Significance: C allele associated with increased risk for cardiovascular diseases, severe COVID-19 course, and chronic inflammatory conditions.

rs1800796
7:22725021
Allele 1

G

/

Allele 2

C

-572G>C:
C allele: Reduced IL6 expression, potentially protective in chronic inflammation.

This variant is often in linkage disequilibrium with rs1800795 and modulates its effect.

๐Ÿ’Š Therapeutic Relevance

Tocilizumab (Actemraยฎ) and Sarilumab are monoclonal antibodies that block the IL6 receptor. They are used for:

  • Rheumatoid Arthritis (standard therapy)
  • Severe COVID-19 with hyperinflammation
  • Systemic juvenile idiopathic arthritis
  • Giant cell arteritis

๐Ÿ“š Data Sources

  • OMIM: #147620 – Interleukin 6; IL6
  • dbSNP: rs1800795, rs1800796
  • ClinVar: Variants with clinical significance in inflammatory diseases
  • PubMed: Over 50,000 publications on IL6 and clinical associations

Last update: February 2026

Biological Function

Interleukin 6 is a multifunctional cytokine. It stimulates the production of acute-phase proteins (e.g., CRP) in the liver, promotes B-cell differentiation, and plays a central role in systemic inflammatory reactions. IL6 is often elevated in chronic inflammation and autoimmune diseases.

Associated Conditions

Rheumatoid Arthritis Systemic Lupus Erythematosus Crohn's Disease COVID-19 (Cytokine Storm) Chronic Inflammation Cardiovascular Diseases
Molecular Analysis

Analyzed Markers

rs1800795 Risk Factor
Pos: 7:22725542 | Alleles: G/C

-174G>C - C-allele: Increased IL6 production, stronger inflammatory response, higher CRP, associated with cardiovascular diseases and severe COVID-19 progression.

rs1800796 Protective
Pos: 7:22725021 | Alleles: G/C

-572G>C - C-allele: Reduced IL6 expression, potentially protective in chronic inflammation.