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Danish cohort of monozygotic inflammatory bowel disease twins: Clinical characteristics and inflammatory activity
Frederik Trier Moller1, Lina Knudsen1, Marcus Harbord1
1Frederik Trier Moller, Lina Knudsen, Vibeke Andersen, Research Unit for Molecular Diagnostics, Hospital of Southern Jutland, 6200 Aabenraa, Denmark.
Aim:
To describe the establishment of a Danish inflammatory bowel diseases (IBD) twin cohort with focus on concordance of treatment and inflammatory markers.
Methods:
We identified MZ twins, likely to be discordant or concordant for IBD, by merging information from the Danish Twin Register and the National Patient Register. The twins were asked to provide biological samples, questionnaires, and data access to patient files and public registries. Biological samples were collected via a mobile laboratory, which allowed for immediate centrifugation, fractionation, and storage of samples. The mean time from collection of samples to storage in the -80 °C mobile freezer was less than one hour. The diagnoses where validated using the Copenhagen diagnostic criteria.
Results:
We identified 159 MZ IBD twin pairs, in a total of 62 (39%) pairs both twins agreed to participate. Of the supposed 62 IBD pairs, the IBD diagnosis could be confirmed in 54 pairs. The cohort included 10 concordant pairs, whereof some were discordant for either treatment or surgery. The 10 concordant pairs, where both pairs suffered from IBD, included eight CD/CD pairs, one UC/UC pair and one UC/IBDU pair. The discordant pairs comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 microg/g in 2 participants, and above 50 microg/g in a further 5 participants.
Conclusion:
The presented IBD twin cohorts are an excellent resource for bioinformatics studies with proper adjustment for disease-associated exposures including medication and inflammatory activity in the co-twins.
Insights
This study established a Danish inflammatory bowel diseases (IBD) twin cohort to examine treatment and inflammatory marker concordance. The cohort provides a valuable resource for future bioinformatics research on IBD.
Area of Science:
- Gastroenterology
- Genetics
- Epidemiology
Background:
- Inflammatory bowel diseases (IBD) encompass Crohn's disease (CD) and ulcerative colitis (UC).
- Twin studies are crucial for dissecting genetic and environmental contributions to complex diseases like IBD.
- Understanding concordance in IBD is key to identifying disease triggers and optimizing treatment.
Purpose of the Study:
- To establish a Danish cohort of monozygotic (MZ) twins with inflammatory bowel diseases (IBD).
- To investigate concordance rates for IBD, treatment, and surgical interventions within MZ twin pairs.
- To assess inflammatory markers in IBD-affected and unaffected co-twins.
Main Methods:
- Merged data from the Danish Twin Register and National Patient Register to identify MZ twin pairs discordant or concordant for IBD.
- Collected biological samples, questionnaires, and patient data via a mobile laboratory for immediate sample processing and storage.
- Validated IBD diagnoses using the Copenhagen diagnostic criteria.
Main Results:
- Identified 159 MZ IBD twin pairs; 62 pairs participated, with 54 confirmed IBD diagnoses.
- Included 10 concordant IBD pairs (8 CD/CD, 1 UC/UC, 1 UC/IBDU) and discordant pairs across UC, IBDU, and CD.
- Elevated calprotectin levels (>50 µg/g) were observed in some unaffected co-twins.
Conclusions:
- The established Danish IBD twin cohort is a valuable resource for bioinformatics studies.
- The cohort allows for proper adjustment for disease-associated exposures, including medication and inflammatory activity.
- This resource facilitates research into the complex etiology of IBD.
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