We analyzed single nucleotide polymorphisms (SNPs) in PKNOX1 (rs2839629) and in the intergenic region between PKNOX1 and CBS (rs915854) by Sanger sequencing in 88 patients with multiple myeloma treated with bortezomib. All patients (n = 13) harboring a homozygous mutation in PKNOX1 (rs2839629) also had a homozygous mutated rs915854 genotype. Homozygous mutated genotypes of rs2839629 and rs915854 were significantly enriched in patients with painful peripheral neuropathy (PNP) (P < 0.0001), and homozygous mutated rs2839629 genotype was significantly enriched in patients with pain compared to patients with no pain (P = 0.04). In summary, both SNPs rs2839629 and/or rs915854 may be potential biomarkers predicting an increased risk to develop painful PNP under bortezomib.

中文翻译：

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硼替佐米诱导周围神经病变和 PKNOX1 中的单核苷酸多态性

我们通过 Sanger 测序分析了 88 名接受硼替佐米治疗的多发性骨髓瘤患者的 PKNOX1 (rs2839629) 和 PKNOX1 与 CBS 之间的基因间区域 (rs915854) 的单核苷酸多态性 (SNP)。在 PKNOX1 (rs2839629) 中携带纯合突变的所有患者 (n = 13) 也具有纯合突变 rs915854 基因型。rs2839629 和 rs915854 的纯合突变基因型在疼痛性周围神经病变 (PNP) 患者中显着富集 (P < 0.0001)，与无疼痛患者相比，在疼痛患者中 rs2839629 纯合突变基因型显着富集 (P = 0.04)。总之，SNP rs2839629 和/或 rs915854 可能是潜在的生物标志物，预测在硼替佐米治疗下发生疼痛性 PNP 的风险增加。