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Title: Asp299Gly mutation of Toll-like receptor-4 gene in children with inflammatory bowel disease in South-Eastern Poland

Andrzej Wędrychowicz, Mirosław Bik-Multanowski, Kinga Kowalska-Duplaga, Urszula Jedynak-Wąsowicz, Stanisław Pieczarkowski, Małgorzata Sładek, Katarzyna Przybyszewska, Marta Drabarek, Jacek J. Pietrzyk, Krzysztof Fyderek
Contemporary Pediatrics, Gastroenterology, Hepatology and Child Feeding
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Asp299Gly, TLR-4, inflammatory bowel disease, children

Introduction: Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC) are diseases with strong genetic background and significant influence of the environmental factors. The results of the latest research studies suggested the contri-bution of the Asp299Gly mutation of the Toll-like receptor-4 (TLR-4) gene to the pathogenesis of IBD. The incidence of this mutation in IBD patients in Western Europe is different, the highest one is in Belgium, about 20%. There is no data available on TLR-4 mutation inci­dence in Poland. The aim of the study: The aim of our study was the assessment of Asp299Gly mutation of TLR-4 gene and genotype-phenotype corre-lation in children with IBD in South-Eastern Poland. Material and methods: 83 children (40 girls, 43 boys, average age 11.4 yrs, range 3-18 years) with IBD and 30 healthy controls were included into the study. CD group consisted of 47 children and UC group consisted of 36 children. Asp299Gly mutation was assessed using PCR-RLFP method. Results: We found Asp299Gly mutation in 29.8% of CD children and 30.5% of UC children (mutant allele frequency: 26.6% and 27.7%, respectively) and none in controls (p<0.05). 68% of the IBD patients were heterozygous and 32% was homozygous for a mutant allele. Assessing genotype-phenotype correlation we found Asp299Gly mutation in 42% of CD patients with fibrostenosing disease compared to 24% of CD patients with fistulizing disease and none of CD patients with inflammatory disease. Asp299Gly mutation was also asso-ciated with younger age of onset of disease and faster and more severe clinical manifestation. UC children with Asp299Gly mutation also presented the severe course of disease and multiple exacerbations. Conclusions: Asp299Gly mutant frequency of TLR-4 gene is higher in IBD children population in South-Eastern Poland compared to Western Europe. The presence of Asp299Gly mutation is associated with early manifestation and severe course both of UC and CD.