Genomic Analysis of Single Nucleotide Polymorphisms Asp299Gly and Thr399Ile in Japanese Patients with Invasive Aspergillosis
Genomic Analysis of Single Nucleotide Polymorphisms Asp299Gly and Thr399Ile in Japanese Patients with Invasive Aspergillosis
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DOI：
10.7883/yoken.jjid.2014.420
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发表时间：
2015-07-01
影响因子：
2.2
通讯作者：
Shibuya, Kazutoshi
中科院分区：
文献类型：
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作者：
Aki, Kyoko;Okubo, Yoichiro;Shibuya, Kazutoshi
Toll 样受体 4 (TLR4) 编码基因中的单核苷酸多态性 (SNP) 1063A/G (Asp299Gly) 和 1363C/T (Thr399Ile) 会增加对侵袭性曲霉菌病的易感性。然而，有关这些 SNP 在日本流行情况的信息有限。因此，我们通过使用从侵袭性肺曲霉病患者尸检中获得的福尔马林固定和石蜡包埋的组织块来调查这些 TLR4 SNP。大约 30% 患者的组织样本被纳入基因组分析中。然而，这些样品均未显示 TLR4 Asp299Gly 和 Thr399Ile 多态性的存在。因此，本研究提供了有关日本侵袭性曲霉病患者中 TLR4 SNP 患病率的信息，并表明这些 SNP 在增加日本个体对侵袭性曲霉病的易感性方面发挥了次要作用。
Single nucleotide polymorphisms (SNPs) 1063A/G (Asp299Gly) and 1363C/T (Thr399Ile) in the gene encoding Toll-like receptor 4 (TLR4) increase susceptibility to invasive aspergillosis. However, limited information is available on the prevalence of these SNPs in Japan. Therefore, we surveyed these TLR4 SNPs by using formalin-fixed and paraffin-embedded tissue blocks obtained from autopsies of patients with invasive pulmonary aspergillosis. Tissue samples of approximately 30% patients were included in genomic analysis. However, none of these samples showed the presence of TLR4 Asp299Gly and Thr399Ile polymorphisms. Thus, the present study provided information on the prevalence of TLR4 SNPs in Japanese patients with invasive aspergillosis and indicated that these SNPs played a minor role in increasing the susceptibility of Japanese individuals to invasive aspergillosis.