The 3′UTR NFKBIA Variant Is Associated with Extensive Colitis in Hungarian IBD Patients
The 3′UTR NFKBIA Variant Is Associated with Extensive Colitis in Hungarian IBD Patients
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DOI：
10.1007/s10620-008-0351-6
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发表时间：
2009-02-01
影响因子：
3.1
通讯作者：
Andrikovics, Hajnalka
中科院分区：
文献类型：
--
作者：
Szamosi, Tamas;Lakatos, Peter Laszlo;Andrikovics, Hajnalka
目的在以往的研究中，NFKBIA 3 '等位基因不能预测药物治疗的反应或手术的需要，UTR（untranslated region，非翻译区）AA基因型与克罗恩病（Crohn's disease，CD）相关，而NFKB 1 - 94 ins/del-ATTG突变增加溃疡性结肠炎（ulcerative colitis，UC）的风险。本研究的目的是调查这两个多态性和匈牙利炎症性肠病（IBD）患者对药物治疗和/或疾病表型的反应。方法对415例无关IBD患者进行NFKBIA 3 'UTR-和NFKB 1 - 94 ins/delATTG多态性研究（CD：266例患者，平均年龄35.2 ± 12.1岁，持续时间8.7 ± 7.5年; UC患者：149例，平均年龄44.4 ± 15.4岁，病程10.7 ± 8.9年）和149例对照。通过审查病历确定详细的临床表型。结果NFKBIA 3 'UTR和NFKB 1 - 94 ins/ delATTG基因型和等位基因频率在IBD组和对照组间差异无统计学意义。在UC患者中，3 'UTR GG基因型与广泛性结肠炎相关（55.3%与29.4%，比值比2.97，95%置信区间1.45-6.08）。变异等位基因的存在并不能预测对类固醇、英夫利西单抗的反应或是否需要手术。结论NFKBIA 3 'UTR GG基因型与匈牙利患者广泛性结肠炎风险增加相关。相比之下，变异等位基因不能预测药物治疗的反应或手术的需要。
Purpose In previous studies the NFKBIA 3'alleles did not predict response to medical therapy or need for surgery.UTR (untranslated region) AA genotype was associated with Crohn's disease (CD), while the NFKB1-94ins/del-ATTG mutation increased the risk for ulcerative colitis (UC). The aim of our study was to investigate these two polymorphisms and patients' response to medical therapy and/or disease phenotype in Hungarian inflammatory bowel disease (IBD) patients. Methods NFKBIA 3'UTR- and NFKB1-94ins/delATTG polymorphisms were investigated in 415 unrelated IBD patients (CD: 266 patients, mean age 35.2 +/- 12.1 years, duration 8.7 +/- 7.5 years; UC patients: 149, mean age 44.4 +/- 15.4 years, duration 10.7 +/- 8.9 years) and 149 controls by PCR-restriction fragment length polymorphism (RFLP) analysis. Detailed clinical phenotypes were determined by reviewing the medical charts. Results The NFKBIA 3'UTR and NFKB1-94ins/ delATTG genotypes and allele frequencies were not significantly different among IBD and controls. In patients with UC, the 3'UTR GG genotype was associated with extensive colitis (55.3 vs. 29.4%, odds ratio 2.97, 95% confidence interval 1.45-6.08). The presence of variant alleles did not predict response to steroids, infliximab, or need for surgery. Conclusions The NFKBIA 3'UTR GG genotype was associated with an increased risk for extensive colitis in Hungarian patients. In contrast, variant alleles did not predict response to medical therapy or need for surgery.