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Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease-A Polish
Aleksandra Glapa-Nowak1, Mariusz Szczepanik1, Aleksandra Banaszkiewicz2
1Department of Pediatric Gastroenterology and Metabolic Diseases, Poznań University of Medical Sciences, 60-572 Poznan, Poland.
Insights
Genetic variations in DMBT1 and SFTPD may influence inflammatory bowel disease (IBD) severity in children. Specific DMBT1 (Deleted in malignant brain tumours 1 protein) and SFTPD (surfactant protein D) polymorphisms showed links to disease activity and treatment needs.
Area of Science:
- Genetics
- Pediatric Gastroenterology
- Immunology
Background:
- Deleted in malignant brain tumours 1 protein (DMBT1) and surfactant protein D (SFTPD) are antimicrobial peptides implicated in inflammatory bowel disease (IBD) susceptibility.
- Genetic polymorphisms in these genes are potential factors influencing IBD pathogenesis and clinical course.
Purpose of the Study:
- To investigate the association between IBD-associated polymorphisms in DMBT1 and SFTPD and disease severity in pediatric IBD patients.
- To correlate specific genetic variants with clinical manifestations, treatment responses, and disease outcomes.
Main Methods:
- Genotyping of 406 pediatric IBD patients (Crohn's disease and ulcerative colitis) using hydrolysis probe assay for DMBT1 (rs2981804, rs2981745) and SFTPD polymorphisms.
- Clinical data collection included disease activity, biochemical markers, disease behavior (Paris classification), treatment modalities, hospitalizations, relapses, and nutritional status.
Main Results:
- DMBT1 rs2981804 (AA genotype) was associated with increased biological treatment, concomitant diseases, and cutaneous manifestations in IBD patients.
- In ulcerative colitis, rs2981804 correlated with albumin levels at diagnosis.
- In Crohn's disease, DMBT1 rs2981745 linked to severe relapses and time to immunosuppression. SFTPD (rs721917) showed a potential association with age at first immunosuppression.
Conclusions:
- Specific polymorphisms in DMBT1 and SFTPD may be associated with certain measures of disease severity in children with IBD.
- While associations were observed, their clinical significance and magnitude appear minor, warranting further investigation.
Abstract:
Deleted in malignant brain tumours 1 protein (DMBT1) and surfactant protein D (SFTPD) are antimicrobial peptides previously linked to inflammatory bowel disease (IBD) susceptibility. This study attempts to link the most potential IBD-associated polymorphisms in DMBT1 and SFTPD with the disease severity in children. A total of 406 IBD patients (Crohn's disease (CD) n = 214 and ulcerative colitis (UC) n = 192) were genotyped using hydrolysis probe assay. Clinical expression was described by disease activity scales, albumin and C-reactive protein levels, localisation and behaviour (Paris classification), systemic steroid, immunosuppressive, biological, and surgical treatment, number of exacerbation-caused hospitalisations, relapses and nutritional status. IBD patients with the risk genotype (AA) in DMBT1 rs2981804 had more frequent biological treatment (AA: vs. AG/GG; p = 0.012), concomitant diseases (AA vs. AG vs. GG; p = 0.015) and cutaneous manifestations (AA vs. AG/GG, p = 0.008). In UC, rs2981804 genotypes might be linked with albumin concentrations at diagnosis (AA vs. AG vs. GG; p = 0.009). In CD, DMBT1 rs2981745 was significantly associated with the number of severe relapses per year of disease (p = 0.020) and time-to-immunosuppression (p = 0.045). SFTPD was seemingly found to be associated with age at first immunosuppression in IBD (CC vs. CT vs. TT; p = 0.048). In conclusion, selected polymorphisms of DMBT1 and SFTPD might be associated with some disease severity measures in children with IBD. However, the magnitude of associations and their clinical relevance might be minor.
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