Strisciuglio Caterina, Auricchio Renata, Martinelli Massimo, Staiano Annamaria, Giugliano Francesca Paola, Andreozzi Marialuisa, De Rosa Marina, Giannetti Eleonora, Gianfrani Carmela, Izzo Paola, Troncone Riccardo, Miele Erasmo
Department of Translational Medical Sciences, Section of Pediatrics, University of Naples "Federico II", Italy.
Department of Translational Medical Sciences, Section of Pediatrics, University of Naples "Federico II", Italy.
Dig Liver Dis. 2014 Jun;46(6):512-7. doi: 10.1016/j.dld.2014.02.016. Epub 2014 Mar 19.
Little evidence demonstrating the correlation between several single nucleotide polymorphisms and a specific phenotype of Crohn's disease has been reported in children. We investigated the relationship between autophagy genes variants and clinical features in our children with Crohn's disease.
Genotyping for ATG16L1, NOD2/CARD15, and IRGM1 was performed in 80 consecutive patients with Crohn's disease (median age: 11 years; range: 0.7-17.9 years). Crohn's disease location and behaviour were classified using the Paris classification. Additional data were collected from clinical records on patients' demographics, age at symptom onset and diagnosis, extraintestinal manifestations, therapy, clinical relapses, and need of surgical intervention.
Patients homozygous for the risk allele ATG16L1 (T300A) showed a trend towards switching to a stricturing phenotype during the course of disease compared to children either homozygous for the wild-type allele or heterozygous for the ATG16L1 single nucleotide polymorphism (p=0.01). Homozygosity for the ATG16L1 risk allele was associated with a major recurrence of clinical relapses and earlier introduction of immunosuppressants (p=0.006 and p=0.04, respectively). Heterozygosity for the NOD2 rs2066847 allele was associated with major ileal involvement (p=0.01).
In patients carrying the T300A variant, Crohn's disease follows a more aggressive clinical course.
在儿童中，鲜有证据表明几种单核苷酸多态性与克罗恩病的特定表型之间存在关联。我们研究了自噬基因变异与克罗恩病患儿临床特征之间的关系。
对80例连续的克罗恩病患者（中位年龄：11岁；范围：0.7 - 17.9岁）进行了ATG16L1、NOD2/CARD15和IRGM1基因分型。使用巴黎分类法对克罗恩病的病变部位和行为进行分类。从临床记录中收集了患者的人口统计学数据、症状发作和诊断时的年龄、肠外表现、治疗、临床复发情况以及手术干预需求等额外数据。
与野生型等位基因纯合子或ATG16L1单核苷酸多态性杂合子儿童相比，ATG16L1风险等位基因（T300A）纯合子患者在疾病过程中表现出向狭窄型表型转变的趋势（p = 0.01）。ATG16L1风险等位基因纯合子与临床复发的主要复发以及更早引入免疫抑制剂相关（分别为p = 0.006和p = 0.04）。NOD2 rs2066847等位基因杂合子与主要的回肠受累相关（p = 0.01）。
携带T300A变异的患者中，克罗恩病的临床病程更为侵袭性。
