高级检索

炎症性肠病患者TPMT及NUDT15基因多态性与肠壁炎性反应及能谱成像的相关性

Correlations between TPMT and NUDT15 gene polymorphisms and intestinal wall inflammatory response as well as energy spectrum imaging in the patients with inflammatory bowel disease

    摘要
  • 摘要:
      目的  探讨炎症性肠病（IBD）患者硫嘌呤甲基转移酶（TPMT）及核苷二磷酸连接的部分X型基序15（NUDT15）基因多态性与肠壁炎性反应及能谱成像的相关性。
      方法  收集60例中国籍IBD患者（IBD组）及60例健康对照组人群的外周血样本并提取DNA。使用基因组DNA作为模板进行聚合酶链式反应（PCR），对R139C的NUDT15基因的变体和TPMT*3C的TPMT变体进行基因分型。分析TPMT及NUDT15基因多态性与硫唑嘌呤（AZA）治疗后肠壁炎性反应及能谱成像的相关性。
      结果  TPMT c.719A>G中，IBD组AA基因型和A等位基因频率显著降低（P < 0.05），AG和GG基因型以及G等位基因频率显著增高（P < 0.05）。NUDT15 c.415C>T中，IBD组CC基因型和C等位基因频率显著降低（P < 0.05），CT和TT基因型以及T等位基因频率显著增高（P < 0.05）。TPMT AA基因型和A等位基因频率肠壁炎性反应缓解率较AG和GG基因型以及G等位基因频率显著增高（P < 0.05），NUDT15 CC基因型和C等位基因频率肠壁炎性反应缓解率较CT和TT基因型以及T等位基因频率显著增高（P < 0.05）。TPMT AA基因型和A等位基因频率CT能谱成像检出率较AG和GG基因型以及G等位基因频率显著降低（P < 0.05），NUDT15 CC基因型和C等位基因频率能谱成像检出率较CT和TT基因型以及T等位基因频率显著降低（P < 0.05）。
      结论  IBD患者中NUDT15的突变率高于TPMT。NUDT15多态性较TPMT多态性更能预测AZA引起的肠壁炎性反应和能谱成像检出率。

     

    Abstract:
      Objective  To investigate the correlations between thiopurine methyltransferase (TPMT) and nucleoside diphophate-linked moiety X-type motif 15 (NUDT15) gene polymorphisms and inflammatory response of the intestinal wall as well as energy spectrum imaging in patients with inflammatory bowel disease (IBD).
      Methods  Peripheral blood samples of 60 Chinese patients with IBD and 60 healthy people were obtained and their DNA was extracted. Genomic DNA was used as the template for polymerase chain reaction (PCR), genotyping was performed on the variant of R139C NUDT15 gene and TPMT variant of TPMT*3C. The correlations between TPMT, NUDT15 gene polymorphisms and inflammatory response of the intestinal wall after azathioprine (AZA) treatment as well as energy spectrum imaging were analyzed.
      Results  In TPMT c.719A>G, the frequencies of AA genotype and A allele decreased significantly in the IBD group (P < 0.05), and the frequencies of AG and GG genotype and G allele increased significantly (P < 0.05). In NUDT15 c.415C>T, the CC genotype and C allele frequencies decreased significantly in the IBD group (P < 0.05), and the CT and TT genotypes and T allele frequencies increased significantly in the IBD group (P < 0.05). The remission rates of intestinal wall inflammatory response in TPMT AA genotype and A allele frequencies increased significantly when compared with AG and GG genotype and G allele frequencies (P < 0.05), while those in NUDT15 CC genotype and C allele frequencies increased significantly when compared with CT and TT genotype and T allele frequencies (P < 0.05). The detection rates of CT energy spectrum imaging in TPMT AA genotype and A allele frequencies were significantly lower than that in AG and GG genotype and G allele frequencies (P < 0.05). The detection rates of energy spectrum imaging in NUDT15 CC genotype and C allele frequencies were significantly lower than those in CT and TT genotype and T alleles frequencies (P < 0.05).
      Conclusion  The mutation rate of NUDT15 in Chinese IBD patients is significantly higher than that of TPMT. NUDT15 polymorphism is more predictable than TPMT polymorphism in AZA-induced intestinal wall inflammatory response and detection rate of energy spectrum imaging.

     

    • HTML全文
    • 参考文献(20)
    • 相关文章
    • 施引文献
  • 资源附件(0)

/

返回文章
返回