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Updated: Jun 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis
E A M Festen1, P Goyette, R Scott
1Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
The IL2/IL21 genetic locus is strongly associated with ulcerative colitis (UC) and moderately with Crohn's disease (CD). This finding confirms the IL2/IL21 region as a susceptibility locus for inflammatory bowel diseases (IBDs).
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Inflammatory bowel diseases (IBDs), including Crohn's disease (CD) and ulcerative colitis (UC), have a significant genetic component.
- The IL2/IL21 locus (4q27) is a known risk locus for various inflammatory diseases.
- Interleukins 2 (IL2) and 21 (IL21) play crucial roles in immune responses, making them candidates for IBD susceptibility.
Purpose of the Study:
- To investigate the association between the IL2/IL21 genetic locus and the risk of developing IBDs.
- To determine if specific single nucleotide polymorphisms (SNPs) within the IL2/IL21 locus are linked to UC and CD.
Main Methods:
- Genotyping of four key SNPs in the IL2/IL21 locus was performed in three independent cohorts: Dutch, North American, and Italian.
- A total of 4782 IBD cases (3194 UC, 1588 CD) and 2616 controls were included in the study.
- Statistical analyses included allelic association testing and a pooled analysis using the Cochran-Mantel-Haenszel test.
Main Results:
- All four genotyped SNPs showed a strong association with UC across all cohorts, reaching genome-wide significance in the pooled analysis.
- A moderate association was observed between the IL2/IL21 locus SNPs and Crohn's disease (CD) in the pooled analysis.
- Specific SNP associations for UC were highly significant (e.g., rs13151961 p = 1.35 x 10(-10)).
Conclusions:
- The IL2/IL21 locus is strongly associated with ulcerative colitis (UC).
- This study confirms the IL2/IL21 region as a general susceptibility locus for inflammatory diseases, including IBDs.
- The findings contribute to understanding the genetic underpinnings of IBDs.
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