Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
Aleksandra Glapa-Nowak,
Mariusz Szczepanik,
Aleksandra Banaszkiewicz,
Barbara Iwańczak,
Jarosław Kwiecień,
Anna Szaflarska-Popławska,
Urszula Grzybowska-Chlebowczyk,
Marcin Osiecki,
Jarosław Kierkuś,
Marcin Banasiuk,
Tomasz Banasiewicz,
Jens Madsen,
Jarosław Walkowiak
Affiliations
Aleksandra Glapa-Nowak
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznań University of Medical Sciences, 60-572 Poznan, Poland
Mariusz Szczepanik
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznań University of Medical Sciences, 60-572 Poznan, Poland
Aleksandra Banaszkiewicz
Department of Pediatric Gastroenterology and Nutrition, Medical University of Warsaw, 02-091 Warszawa, Poland
Barbara Iwańczak
Department and Clinic of Pediatrics, Gastroenterology and Nutrition, Wroclaw Medical University, 50-367 Wrocław, Poland
Jarosław Kwiecień
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-055 Katowice, Poland
Anna Szaflarska-Popławska
Department of Pediatric Endoscopy and Gastrointestinal Function Testing, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, 85-067 Bydgoszcz, Poland
Urszula Grzybowska-Chlebowczyk
Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, Poland
Marcin Osiecki
The Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Jarosław Kierkuś
The Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Marcin Banasiuk
Department of Pediatric Gastroenterology and Nutrition, Medical University of Warsaw, 02-091 Warszawa, Poland
Tomasz Banasiewicz
Chair and Department of General Surgery, Gastroenterological Surgical Oncology and Plastic Surgery, Poznań University of Medical Sciences, 60-572 Poznan, Poland
Jens Madsen
The Elizabeth Garrett Anderson Institute for Women’s Health, Faculty of Population Health Sciences, University College London, London 84-86, UK
Jarosław Walkowiak
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznań University of Medical Sciences, 60-572 Poznan, Poland
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.
