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Updated: Mar 18, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel
Yuan Xiao1, Xin-Qiong Wang1, Yi Yu1
1Yuan 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.
Insights
Mutations in IL-10RA and IL-10RB genes are common in Chinese children with very early-onset inflammatory bowel disease (VEO-IBD). These genetic variations are linked to lower body weight, hemoglobin, and poorer prognosis in affected pediatric patients.
Area of Science:
- Genetics
- Pediatric Gastroenterology
- Molecular Biology
Background:
- Very early-onset inflammatory bowel disease (VEO-IBD) presents unique diagnostic and therapeutic challenges in pediatric populations.
- Understanding the genetic underpinnings of VEO-IBD is crucial for developing targeted treatments and improving patient outcomes.
- Previous studies have identified various genetic factors associated with IBD, but specific genetic bases in Chinese pediatric cohorts require further investigation.
Purpose of the Study:
- To identify the genetic basis of VEO-IBD in Chinese pediatric patients through comprehensive sequencing analysis.
- To investigate the prevalence of mutations in candidate genes associated with inflammatory bowel disease in this specific demographic.
- To correlate identified genetic variations with clinical characteristics and disease severity in Chinese children with VEO-IBD.
Main Methods:
- Sequencing analysis of 10 candidate genes (IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30) in 13 Chinese pediatric VEO-IBD patients using Next-Generation Sequencing (NGS).
- DNA extraction from peripheral blood samples followed by exonic region sequencing on an Illumina-Miseq platform.
- Verification of detected variations using Sanger sequencing and analysis of clinical characteristics.
Main Results:
- Mutations in IL-10RA and IL-10RB genes were identified in five out of 13 pediatric VEO-IBD patients.
- Four patients exhibited single nucleotide polymorphisms (SNPs) associated with IBD, with two having combined IL-10RA/FUT2 and two having IL-10RB/FUT2 polymorphisms.
- Patients with mutations showed significantly lower percentile body weight (1.0% vs 27.5%, P = 0.002) and hemoglobin levels (87.4 g/L vs 108.5 g/L, P = 0.040) compared to those without mutations.
Conclusions:
- Mutations in Interleukin-10 Receptor Subunit Alpha (IL-10RA) and Interleukin-10 Receptor Subunit Beta (IL-10RB) are prevalent genetic factors in Chinese children diagnosed with VEO-IBD.
- These genetic mutations are associated with an earlier onset of disease, reduced body weight and hemoglobin levels, and a poorer overall prognosis in pediatric patients.
- The findings highlight the importance of genetic screening for IL-10RA and IL-10RB mutations in Chinese children with VEO-IBD to guide clinical management and predict disease trajectory.
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 prognosis.
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