Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations
Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations
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DOI：
10.1038/jhg.2014.32
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发表时间：
2014-06-01
影响因子：
3.5
通讯作者：
Seo, Jeong Kee
中科院分区：
文献类型：
--
作者：
Shim, Jung Ok;Seo, Jeong Kee
婴儿期可能有更强的遗传影响。最近，白细胞介素-10（IL-10）信号通路中遗传缺陷的研究为炎症性肠病（IBD）提供了新的见解。本研究旨在揭示IL-10信号通路基因突变是否与IBD的表型有关。入组了40名10岁以下被诊断患有IBD的儿童。我们测定了IL-10受体A（IL-10 RA）、IL-10 RB和IL-10基因的序列，并分析了极早发型IBD（VEO-IBD）的临床特征。40名儿童中有14名在1岁内出现症状。我们在40名儿童中的7名（17.5%）中发现IL-10 RA突变。所有7名儿童在出生后一年内都出现了症状。特别是，半数的IBD患儿有IL-10 RA突变。其余26名1岁以上确诊的儿童均未发生IL-10 RA突变。在IL-10 RB和IL-10中未发现突变。鉴定的IL-10 RA突变为p.（R101W），p.（Y91C），p.（R262C），p.（R117 H）和p.（W69R）。IL-10 RA基因突变与婴儿期发病相关（P
Infantile periods may have stronger genetic influences. Recently, studies on genetic defects in the interleukin-10 (IL-10) signaling pathway have provided new insights into inflammatory bowel disease (IBD). This study is to reveal whether mutations of IL-10 signaling pathway genes contribute to the phenotypes of IBD. Forty children who were diagnosed with IBD below the age of 10 years were enrolled. We sequenced the genes interleukin-10 receptor A (IL-10RA), IL-10RB and IL-10, and analyzed the clinical characteristics of very early-onset IBD (VEO-IBD). In total, 14 out of the 40 children developed their symptoms within 1 year of age. We found mutations in IL-10RA in 7 out of the 40 children (17.5%). All seven children had developed symptoms within the first year of life. Particularly, half of the children with infantile-onset IBD had IL-10RA mutations. None of the remaining 26 children diagnosed above 1 year of age had IL-10RA mutations. No mutations were found in IL-10RB and IL-10. Identified IL-10RA mutations were p.(R101W), p.(Y91C), p.(R262C), p.(R117H) and p.(W69R). IL-10RA mutations were associated with onset of infancy (P