<i>Macrophage-Stimulating 1</i> Polymorphism rs3197999 in Pediatric Patients with Inflammatory Bowel Disease
Jan Brylak,
Jan K. Nowak,
Emilia Dybska,
Aleksandra Glapa-Nowak,
Jarosław Kierkuś,
Marcin Osiecki,
Aleksandra Banaszkiewicz,
Andrzej Radzikowski,
Anna Szaflarska-Popławska,
Jarosław Kwiecień,
Anna Buczyńska,
Jarosław Walkowiak
Affiliations
Jan Brylak
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Jan K. Nowak
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Emilia Dybska
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Aleksandra Glapa-Nowak
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Jarosław Kierkuś
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Marcin Osiecki
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Aleksandra Banaszkiewicz
Department of Pediatric Gastroenterology and Nutrition, Medical University of Warsaw, 02-091 Warsaw, Poland
Andrzej Radzikowski
Department of Pediatric Gastroenterology and Nutrition, Medical University of Warsaw, 02-091 Warsaw, Poland
Anna Szaflarska-Popławska
Department of Pediatric Endoscopy and Gastrointestinal Function Testing, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, 85-094 Bydgoszcz, Poland
Jarosław Kwiecień
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-055 Katowice, Poland
Anna Buczyńska
Department of Pediatrics, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland
Jarosław Walkowiak
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Background and Objectives: Inflammatory bowel disease (IBD), which includes Crohn’s disease (CD) and ulcerative colitis (UC), often necessitates long-term treatment and hospitalizations and also may require surgery. The macrophage-stimulating 1 (MST1) rs3197999 polymorphism is strongly associated with the risk of IBD but its exact clinical correlates remain under investigation. We aimed to characterize the relationships between the MST1 rs3197999 genotype and the clinical characteristics in children and adolescents with IBD within a multi-center cross-sectional study. Materials and Methods: Clinical data included serum C-reactive protein (CRP), albumin, activity indices (PUCAI, PCDAI), anthropometric data, pharmacotherapy details, surgery, and disease severity. Genotyping for rs3197999 was carried out using TaqMan hydrolysis probes. Results: The study included 367 pediatric patients, 197 with Crohn’s disease (CD) (40.6% female; a median age of 15.2 years [interquartile range 13.2–17.0]) and 170 with ulcerative colitis (UC) (45.8% female; a median age of 15.1 years [11.6–16.8]). No significant relationships were found between MST1 genotypes and age upon first biologic use, time from diagnosis to biological therapy introduction, PUCAI, PCDAI, or hospitalizations for IBD flares. However, in IBD, the height Z-score at the worst flare was negatively associated with the CC genotype (p = 0.016; CC: −0.4 [−1.2–0.4], CT: −0.1 [−0.7–0.8], TT: 0.0 [−1.2–0.7)]). The TT genotype was associated with higher C-reactive protein upon diagnosis (p = 0.023; CC: 4.3 mg/dL [0.7–21.8], CT 5.3 mg/dL [1.3–17.9], TT 12.2 mg/dL [3.0–32.9]). Conclusions: This study identified links between MST1 rs3197999 and the clinical characteristics of pediatric IBD: height Z-score and CRP. Further studies of the associations between genetics and the course of IBD are still warranted, with a focus on more extensive phenotyping.
