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BCL2 相互作用蛋白 3 样(BNIP3L)基因多态性与中国多发性骨髓瘤风险的关系。

Association between BCL2 interacting protein 3 like (BNIP3L) genetic polymorphisms and the risk of multiple myeloma in China.

机构信息

Department of Laboratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China.

Department of Scientific Research, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China.

出版信息

Hematology. 2024 Dec;29(1):2367918. doi: 10.1080/16078454.2024.2367918. Epub 2024 Jun 27.

Abstract

BACKGROUND

The BCL2 interacting protein 3-like (BNIP3L) protein is involved in multiple myeloma (MM) development and progression. This study aims to explore the connection between BNIP3L single-nucleotide polymorphisms (SNPs) and MM.

METHODS

SNaPshot was used to examine six SNP loci of the BNIP3L gene in enrolled subjects. The relationship between these loci and MM susceptibility and prognosis was explored. Survival analysis was used to evaluate the impact of different factors on patient survival.

RESULTS

The rs2874670 AA genotype and A allele were associated with increased MM risk ( < 0.05). The CCACAC haplotype had a higher frequency in MM, while CCGCAC had a higher frequency in normal patients (all < 0.05). Patients with R-ISS stage I and II had higher survival rates than those with stage III ( < 0.05). Patients, who received chemotherapy followed by autologous stem cell transplantation, had longer survival time than those who only received chemotherapy ( < 0.05). Low levels of LDH and β2-MG were associated with better survival rates ( < 0.05). Cox regression identified that LDH levels, β2-MG levels, and R-ISS staging were the risk factors for the death of MM. Mann-Whitney U test found a significant difference in survival time between MM patients with different BNIP3L rs2874670 genotypes after BD chemotherapy ( < 0.05).

CONCLUSION

To our knowledge, this is the first study to find that BNIP3L rs2874670 could increase MM susceptibility in China. Different BNIP3L rs2874670 genotypes may affect the prognosis of MM patients receiving BD chemotherapy.

摘要

背景

BCL2 相互作用蛋白 3 样(BNIP3L)蛋白参与多发性骨髓瘤(MM)的发生和发展。本研究旨在探讨 BNIP3L 单核苷酸多态性(SNP)与 MM 之间的关系。

方法

采用 SNaPshot 法检测纳入研究对象的 BNIP3L 基因 6 个 SNP 位点,探讨这些位点与 MM 易感性及预后的关系。采用生存分析评估不同因素对患者生存的影响。

结果

rs2874670AA 基因型和 A 等位基因与 MM 风险增加相关(<0.05)。CCACAC 单倍型在 MM 中频率较高,而 CCGCAC 在正常人群中频率较高(均<0.05)。R-ISS Ⅰ期和Ⅱ期患者的生存率高于Ⅲ期患者(<0.05)。接受化疗后自体造血干细胞移植的患者比仅接受化疗的患者生存时间更长(<0.05)。低水平的 LDH 和β2-MG 与较高的生存率相关(<0.05)。Cox 回归分析确定 LDH 水平、β2-MG 水平和 R-ISS 分期是 MM 死亡的危险因素。Mann-Whitney U 检验发现接受 BD 化疗的 MM 患者不同 BNIP3L rs2874670 基因型的生存时间存在显著差异(<0.05)。

结论

据我们所知,这是第一项在中国发现 BNIP3L rs2874670 可增加 MM 易感性的研究。不同 BNIP3L rs2874670 基因型可能影响接受 BD 化疗的 MM 患者的预后。

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