Although the pathogenesis of acute myeloid leukemia (AML) is still unknown, accumulating evidence has revealed that immune response plays a vital part in the pathogenesis. Here, we investigated the involvement of 21 single nucleotide polymorphisms (SNPs) of immunorelated genes, including cytokines [interleukin (IL)‐2, IL‐4, IL‐9, IL‐12A, IL‐22, interferon (IFN‐α) and transforming growth factor (TGF)‐β1], transcriptional regulatory genes (TBX21 , STAT1 , STAT3 , STAT5B , STAT6 , GATA3 , FOXP3 and IRF4 ) and others (IL2RA , IL6R , NFKBIA ) in 269 AML in‐patients and 200 healthy controls. Furthermore, we analyzed the relationship between the SNPs and clinical characteristics. Immunorelated SNP genotyping was performed on the Sequenom MassARRAY iPLEX platform. All the SNPs in healthy controls were consistent with Hardy–Weinberg equilibrium. All final P‐values were adjusted by Bonferroni multiple testing. Our results showed that IL‐22 (rs2227491) was significantly associated with the white blood cell (WBC) counts. Signal transducer and activator of transcription 5B (STAT‐5B) (rs6503691) showed a close relationship with the recurrent genetic abnormalities in patients with AML. We verified the negatively independent effect of age and risk of cytogenetics on overall survival (OS). More importantly, the GG genotype of IL‐12A (rs6887695) showed a negative impact on AML prognosis independently. Furthermore, the relative expression of IL‐12 was decreased in GG genotype, no matter under a co‐dominant or recessive model. However, no correlation was observed between the SNPs mentioned above and disease susceptibility, risk stratification and survival. Our findings suggest that immunorelated gene polymorphisms are associated with prognosis in AML, which may perform as novel inspection targets for AML patients.

中文翻译：

---

与急性髓系白血病相关的免疫相关基因多态性。

虽然急性髓系白血病（AML）的发病机制尚不清楚，但越来越多的证据表明免疫反应在发病机制中起着至关重要的作用。在这里，我们研究了免疫相关基因的 21 个单核苷酸多态性 (SNP) 的参与，包括细胞因子 [白介素 (IL)-2、IL-4、IL-9、IL-12A、IL-22、干扰素 (IFN-α)和转化生长因子 (TGF) -β1 ]、转录调控基因（TBX21、STAT1、STAT3、STAT5B、STAT6、GATA3、FOXP3和IRF4）等（IL2RA、  IL6R、NFKBIA）) 269 名 AML 住院患者和 200 名健康对照者。此外，我们分析了 SNP 与临床特征之间的关系。在 Sequenom MassARRAY iPLEX 平台上进行免疫相关 SNP 基因分型。健康对照中的所有 SNP 均符合 Hardy-Weinberg 平衡。所有最终P- 值通过 Bonferroni 多重检验进行调整。我们的结果表明 IL-22 (rs2227491) 与白细胞 (WBC) 计数显着相关。信号转导和转录激活因子 5B (STAT-5B) (rs6503691) 与 AML 患者的复发性遗传异常密切相关。我们验证了年龄和细胞遗传学风险对总生存期 (OS) 的负面独立影响。更重要的是，IL-12A (rs6887695) 的 GG 基因型对 AML 预后具有独立的负面影响。此外，无论在共显性或隐性模型下，IL-12 的相对表达在 GG 基因型中均降低。然而，在上述 SNP 与疾病易感性、风险分层和存活率之间没有观察到相关性。