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Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease

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World Journal of Gastroenterology 2016年第24期22卷 5578-5588页

作者： Yuan Xiao Xin-Qiong Wang Yi Yu Yan Guo Xu Xu Ling Gong Tong Zhou Xiao-Qin Li Chun-Di Xu Pediatric Department Ruijin Hospital and Ruijin Hospital North Shanghai Jiao Tong University School of Medicine Gastroenterology Department Zhengzhou Children’s Hospital

AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, fut2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30. The Sanger sequencing was used to verify the variations detected in NGS. RESULTS: Out of the 13 pediatric patients, ten were diagnosed with Crohn's disease, and three diagnosed with ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and fut2 polymorphisms, and two patients had IL-10RB and fut2 polymorphisms. gene variations were not found in the rest four patients. Children with mutations had lower percentile body weight ( 1.0% vs 27.5%, P = 0.002) and hemoglobin ( 87.4 g/L vs 108.5 g/L, P = 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in the mutation group, there was no significant difference in these factors between groups. CONCLUSION: IL-10RA and IL-10RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer

关键词： Pediatric inflammatory bowel disease Very early-onset inflammatory bowel disease Interleukin 10 receptor NOD2 gene fut2 gene

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