Retrospective Cohort Study
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jun 28, 2016; 22(24): 5578-5588
Published online Jun 28, 2016. doi: 10.3748/wjg.v22.i24.5578
Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease
Yuan Xiao, Xin-Qiong Wang, Yi Yu, Yan Guo, Xu Xu, Ling Gong, Tong Zhou, Xiao-Qin Li, Chun-Di Xu
Yuan Xiao, Xin-Qiong Wang, Yi Yu, Yan Guo, Xu Xu, Ling Gong, Tong Zhou, Chun-Di Xu, Pediatric Department, Ruijin Hospital and Ruijin Hospital North, Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China
Xiao-Qin Li, Gastroenterology Department, Zhengzhou Children’s Hospital, Zhengzhou 450053, Henan Province, China
Author contributions: Xiao Y and Wang XQ contributed equally to this work; Xiao Y and Xu CD designed this study; Xiao Y and Wang XQ performed the next generation sequencing; Yu Y, Guo Y, Xu X and Gong L collected the patients and recorded the data; Zhou T and Li XQ analyzed the data.
Supported by National Nature Science Foundation of China, No. 81400588.
Institutional review board statement: The study was reviewed and approved by the ethics committee of the Ruijin Hospital, Shanghai Jiao Tong University School of Medicine.
Informed consent statement: All the participants provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors listed declare no conflicts of interest.
Data sharing statement: Technical appendix, statistical code, and dataset is available from the corresponding author at chundixu55@163.com.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Chun-Di Xu, MD, PhD, Pediatric Department, Ruijin Hospital and Ruijin Hospital North, Shanghai Jiao Tong University, School of Medicine, No. 197, Ruijin Er Road, Shanghai 200025, China. chundixu55@163.com
Telephone: +86-21-64370045 Fax: +86-21-64333414
Received: February 28, 2016
Peer-review started: February 29, 2016
First decision: March 31, 2016
Revised: April 13, 2016
Accepted: April 20, 2016
Article in press: April 20, 2016
Published online: June 28, 2016
Processing time: 114 Days and 17.1 Hours
Core Tip

Core tip: In this small-sample size study, we performed next generation sequencing for 10 candidate genes in Chinese pediatric patients with very early onset inflammatory bowel disease. We found that IL-10RA and IL-10RB mutations were common. There were five patients harbouring mutations in these two genes and accounted for 38.5% of all samples. Besides, there were four patients who had single nucleotide polymorphisms associated with inflammatory bowel disease. Pediatric patients with mutations had an earlier disease onset, lower body weight, markedly lower hemoglobin, and poorer prognosis.