Related Experiment Video
Updated: May 12, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis
Jorge Esparza-Gordillo1, Heidi Schaarschmidt, Liming Liang
1Pediatric Allergology, Experimental and Clinical Research Center, Charité Universitätsmedizin Berlin, Berlin, Germany.
Genetic variants influence atopic dermatitis (AD) risk. A specific IL-6 receptor variant (rs2228145) is linked to persistent AD and increased soluble IL-6 receptor levels.
Area of Science:
- Genetics
- Immunology
- Dermatology
Background:
- Atopic dermatitis (AD) is a prevalent inflammatory skin condition.
- Shared genetic factors may link AD with other inflammatory disorders.
- Immune-related genetic markers are potential contributors to AD pathogenesis.
Purpose of the Study:
- To identify novel genetic risk factors for atopic dermatitis.
- To investigate the role of immune-related genetic markers in AD etiology.
Main Methods:
- Systematic review of genome-wide association studies for 318 inflammatory trait markers.
- Multi-step association testing of candidate markers in 7 study populations (7130 AD patients, 9253 controls).
- Analysis of IL-6 receptor (IL-6R) variants and their association with AD subtypes and soluble IL-6R levels.
Main Results:
- A functional IL-6 receptor variant (Asp358Ala; rs2228145) showed significant association with AD (OR=1.15, P=5x10(-9)).
- This variant specifically predisposes to persistent AD (OR=1.22, P=0.0008) and increases soluble IL-6R levels.
- Additional AD risk variants were identified in RAD50, RUNX3, and ERBB3.
Conclusions:
- Genetic variants influencing inflammation are important in AD etiology.
- A functional IL6R genetic variant impacts AD prognosis, specifically predisposing to persistent disease.
- The study highlights the role of IL-6 receptor signaling in atopic dermatitis pathogenesis.
Related Concept Videos
T Cell Types and Functions
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
The JAK-STAT Signaling Pathway
Role Of Notch Signalling In Intestinal Stem Cell Renewal
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
Diversity of Antigen Receptors
Before encountering any antigen, lymphocytes express these receptors. On B cells, the antigen receptor is a membrane-bound antibody molecule called BCR; on T cells, it is a T cell receptor or TCR. B and T cell receptors are composed of two...
Inflammatory Bowel Disease III: Crohn's Disease
