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| 1 | Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease显示文摘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 IlluminaMiseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10 RA, IL-10 RB, NOD2, FUT2, IL23 R, 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-10 RA and IL-10 RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10 RA andFUT2 polymorphisms, and two patients had IL-10 RB 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-10 RA and IL-10 RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer prognosis. | Yuan Xiao Xin-Qiong Wang Yi Yu Yan Guo Xu Xu Ling Gong Tong Zhou Xiao-Qin Li Chun-Di Xu | 2016 | World Journal of Gastroenterology2016，22，24： | 20 |
| 2 | Genetics of inflammatory bowel disease from multifactorial to monogenic forms显示文摘Inflammatory bowel disease(IBD) is a group of chronic multifactorial disorders. According to a recent study,the number of IBD association loci is increased to 201,of which 37 and 27 loci contribute specifically to the development of Crohn's disease and ulcerative colitis respectively. Some IBD associated genes are involved in innate immunity,in the autophagy and in the inflammatory response such as NOD2,ATG16L1 and IL23 R,while other are implicated in immune mediated disease(STAT3) and in susceptibility to mycobacterium infection(IL12B). In case of early onset of IBD(VEO-IBD) within the 6th year of age,the disease may be caused by mutations in genes responsible for severe monogenic disorders such as the primary immunodeficiency diseases. In this review we discuss how these monogenic disorders through different immune mechanisms can similarly be responsible of VEO-IBD phenotype. Moreover we would highlight how the identification of pathogenic genes by Next Generation Sequencing technologies can allow to obtain a rapid diagnosis and to apply specific therapies. | Anna Monica Bianco Martina Girardelli Alberto Tommasini | 2015 | World Journal of Gastroenterology2015，21，43： | 13 |
| 3 | Host-microbiome interaction in Crohn's disease: A familiar or familial issue?显示文摘An impaired interaction between the gut and the intestinal microbiome is likely to be the key element in the pathogenesis of Crohn's disease(CD). Family studies have provided invaluable information on CD pathogenesis and on its etiology. Relatives share the same genetic risk of developing the disease as affected subjects. Relatives also exhibit similar features relating to their host-microbiome interaction, namely genetic variants in loci involved in detecting bacteria, a greater seroreactivity to microbial components, and an impaired intestinal permeability. The burden of environmental factors such as cigarette smoking and dysbiosis also seems to be particularly relevant in these genetically predisposed subjects. Diet is emerging as an important factor and could account for the changing epidemiology of CD in recent years. Despite the pivotal role of genetics in the disease's pathogenesis(especially in familial CD), screening tests in healthy relatives cannot be recommended. | Andrea Michielan Renata D’Incà | 2015 | World Journal of Gastrointestinal Pathophysiology2015，6，4： | 0 |
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