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单核苷酸多态性与异基因骨髓移植后复发之间的关系

Relationship Between an SNP and Relapse After Allogeneic Bone Marrow Transplantation.

作者信息

Takahashi Hidekazu, Yamaguchi Natsu, Okayama Naoko, Nishioka Mitsuaki, Mahbub M H, Hase Ryosuke, Suehiro Yutaka, Yamasaki Takahiro, Takahashi Satoshi, Tojo Arinobu, Tanabe Tsuyoshi

机构信息

Department of Public Health and Preventive Medicine, Yamaguchi University Graduate School of Medicine, Ube 755-8505, Japan.

Division of Laboratory, Yamaguchi University Hospital, Ube 755-8505, Japan.

出版信息

J Clin Med. 2025 Jan 13;14(2):476. doi: 10.3390/jcm14020476.

Abstract

Unrelated bone marrow transplantation (BMT) is a curative treatment for hematological malignancies. While HLA mismatch is a recognized risk factor in unrelated BMT, the significance of non-HLA single nucleotide polymorphisms (SNPs) remains uncertain. Cytokines play key roles in several aspects of unrelated BMT. Although the relationship between cytokine gene SNPs and BMT outcomes has been examined, the findings obtained have been inconsistent; therefore, further investigations in additional cohorts are warranted. Four SNPs in the , , , and genes were retrospectively genotyped in 822 malignant patients and their corresponding donors who received unrelated BMT through the Japan Marrow Donor Program with compatibility at minimum HLA-A, -B, and -DRB1. The relationships between these SNP genotypes and BMT outcomes were statistically analyzed. The donor () SNP, rs1800796, also known as -572G>C and -634C/G, was associated with the relapse of the original disease in both univariable and multivariable regression analyses (minimum -value = 0.0013), and the cumulative incidence curve analysis identified CC as a risk genotype (-value = 0.0012). None of these SNPs correlated with overall survival. The donor SNP, rs1800796, may serve as a useful predictor of tumor relapses if validated.

摘要

非亲缘性骨髓移植(BMT)是治疗血液系统恶性肿瘤的一种治愈性方法。虽然HLA配型不合是公认的非亲缘性BMT的风险因素,但非HLA单核苷酸多态性(SNP)的意义仍不明确。细胞因子在非亲缘性BMT的多个方面发挥关键作用。尽管已经研究了细胞因子基因SNP与BMT结果之间的关系,但所得结果并不一致;因此,有必要在更多队列中进行进一步研究。通过日本骨髓捐赠计划,对822例接受非亲缘性BMT的恶性肿瘤患者及其相应供者进行回顾性基因分型,这些供者在HLA-A、-B和-DRB1至少有一个位点相匹配。对这些SNP基因型与BMT结果之间的关系进行了统计分析。供者白细胞介素6(IL-6)SNP,rs1800796,也称为-572G>C和-634C/G,在单变量和多变量回归分析中均与原发病复发相关(最小P值=0.0013),累积发病率曲线分析确定CC为风险基因型(P值=0.0012)。这些SNP均与总生存期无关。如果得到验证,供者IL-6 SNP,rs1800796,可能作为肿瘤复发的一个有用预测指标。

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