Department of Laboratory Sciences, Gunma University Graduate School of Health Sciences, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8514, Japan.
Institute of Molecular and Cellular Regulation, Gunma University, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511, Japan.
Clin Exp Med. 2021 May;21(2):323-329. doi: 10.1007/s10238-020-00681-w. Epub 2021 Mar 12.
Single-nucleotide polymorphisms (SNPs) of the IDO1 and IDO2 genes have been associated with some diseases. Here, we investigated the association of IDO1 and IDO2 SNPs with the susceptibility to multiple myeloma (MM) and their relationships with MM clinical features. We obtained genomic DNA from 100 patients with MM and 149 healthy race-matched controls and determined IDO1 promoter - 1849G/T (rs3824259) and IDO2 R248W (rs10109853) genotypes by using the polymerase chain reaction-restriction fragment length polymorphism method. The patients with MM had a significantly higher frequency of the IDO2 R248W RR genotype (high-activity type) (59.0% vs. 43.6%, odds ratio = 1.86, 95% confidence interval = 1.11-3.11, P = 0.017) compared with those in healthy controls. Patients with the IDO2 R248W RR genotype (high-activity type) were significantly younger and had a significantly lower frequency of International Staging System (ISS) stage III condition than those with the RW and WW genotypes (median 63 years vs. 69 years, P = 0.025; 15 [25.4%] vs. 50 [48.8%]). In addition, the IDO2 R248W RR genotype was significantly associated with a higher level of hemoglobin at diagnosis (mean ± standard deviation, 10.7 ± 2.36 vs. 9.27 ± 2.40 g/dL; P = 0.0032). Neither polymorphism significantly affected overall survival. Our study indicates that IDO2 R248W may be associated with the susceptibility to MM and severity of anemia.
单核苷酸多态性(SNPs)的 IDO1 和 IDO2 基因已与一些疾病相关。在这里,我们研究了 IDO1 和 IDO2 SNPs 与多发性骨髓瘤(MM)易感性的关联及其与 MM 临床特征的关系。我们从 100 例 MM 患者和 149 名种族匹配的健康对照中获得基因组 DNA,并使用聚合酶链反应-限制性片段长度多态性方法确定 IDO1 启动子-1849G/T(rs3824259)和 IDO2 R248W(rs10109853)基因型。与健康对照组相比,MM 患者 IDO2 R248W RR 基因型(高活性型)的频率明显更高(59.0%vs.43.6%,优势比=1.86,95%置信区间=1.11-3.11,P=0.017)。携带 IDO2 R248W RR 基因型(高活性型)的患者明显更年轻,国际分期系统(ISS)III 期的频率明显低于 RW 和 WW 基因型(中位数 63 岁vs.69 岁,P=0.025;15[25.4%]vs.50[48.8%])。此外,IDO2 R248W RR 基因型与诊断时血红蛋白水平显著升高相关(平均值±标准差,10.7±2.36 vs.9.27±2.40g/dL;P=0.0032)。两种多态性均不显著影响总生存期。我们的研究表明,IDO2 R248W 可能与 MM 的易感性和贫血的严重程度相关。