Zhou Xiang, Han Seungbin, Cebulla Nadine, Haertle Larissa, Steinhardt Maximilian J, Schirmer Daniel, Runau Eva, Flamm Leon, Terhorst Calvin, Jähnel Laura, Vogt Cornelia, Nerreter Silvia, Teufel Eva, Stanojkovska Emilia, Mersi Julia, Munawar Umair, Schindehütte Magnus, Blum Robert, Reinhold Ann-Kristin, Scherf-Clavel Oliver, Rittner Heike L, Pham Mirko, Rasche Leo, Einsele Hermann, Sommer Claudia, Kortüm K Martin
Department of Internal Medicine II, University Hospital of Würzburg, Würzburg, Germany.
Department of Neurology, University Hospital of Würzburg, Würzburg, Germany.
Biomark Res. 2023 May 16;11(1):52. doi: 10.1186/s40364-023-00490-9.
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.
我们通过桑格测序法，对88例接受硼替佐米治疗的多发性骨髓瘤患者的PKNOX1基因（rs2839629）以及PKNOX1与CBS基因之间的基因间区域（rs915854）中的单核苷酸多态性（SNP）进行了分析。所有在PKNOX1基因（rs2839629）中携带纯合突变的患者（n = 13），其rs915854基因型也为纯合突变。rs2839629和rs915854的纯合突变基因型在伴有疼痛性周围神经病变（PNP）的患者中显著富集（P < 0.0001），并且与无疼痛的患者相比，rs2839629纯合突变基因型在有疼痛的患者中显著富集（P = 0.04）。总之，SNP rs2839629和/或rs915854可能是预测硼替佐米治疗下发生疼痛性PNP风险增加的潜在生物标志物。
