Association of MBL gene polymorphisms with major bacterial infection in patients treated with high-dose chemotherapy and autologous PBSCT
Association of MBL gene polymorphisms with major bacterial infection in patients treated with high-dose chemotherapy and autologous PBSCT
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DOI：
10.1038/sj.gene.6364165
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发表时间：
2005-03-01
影响因子：
5
通讯作者：
Harada, M
中科院分区：
文献类型：
--
作者：
Horiuchi, T;Gondo, H;Harada, M
越来越多的证据表明，遗传因素与感染风险增加有关。我们研究了甘露糖结合凝集素（MBL）基因多态性，导致低水平的MBL是否与发生重大感染的患者，主要承担血液恶性肿瘤，大剂量化疗（HDT）后，自体外周血干细胞移植（auto-PBSCT）抢救。对113例接受HDT和auto-PBSCT治疗的患者的回顾性评价显示，低产量基因型B/B和B/LXA与主要细菌感染相关（P = 0.0016，OR 7.9）。接下来，我们进行了一项全国性的大规模研究，以评估在日本总共2623名健康个体中MBL编码突变的等位基因频率。等位基因B的频率估计约为0.2，在日本的七个不同地区几乎相同。这种常见的情况表明，MBL缺乏症可能在免疫抑制的临床环境中发挥重要作用。
A growing body of evidence indicates that genetic factors are involved in an increased risk of infection. We investigated whether mannose-binding lectin (MBL) gene polymorphisms that cause low levels of MBL are associated with the occurrence of major infections in patients, mainly bearing hematological malignancies, after high-dose chemotherapy (HDT) rescued by autologous peripheral blood stem cell transplantation (auto-PBSCT). A retrospective evaluation of 113 patients treated with HDT and auto-PBSCT revealed that the low-producing genotypes, B/B and B/LXA, were associated with major bacterial infection (P = 0.0016, OR 7.9). We next performed a nation-wide large-scale study to assess the allele frequency of the MBL coding mutation in a total of 2623 healthy individuals in Japan. The frequency of allele B was estimated to be similar to0.2, almost the same in seven different areas of Japan. This common occurrence suggests that MBL deficiency may play an important role in the clinical settings of immunosuppression.