[摘要] 目的：分析168例患者的WT1基因多态性与多发性骨髓瘤（multiple myeloma，MM）易感的相关性。方法：以河北省中医院及河北省人民医院2013年1月至2017年12月住院的168名MM患者为研究对象，中位年龄62.4岁（36岁～83岁），其中男性121例（72%）、女性47例（28%），采用SSP-PCR和SBT-PCR对样本WT1基因的多态性进行检测分析。结果：MM患者中有11种WT1等位基因被检测出，WT1*010、WT1*012两等位基因在MM组中占有较高频率（WT1*010:OR=6.13，95%CI:3.5～10.75，PC<0.000;WT1*012:OR=2.06，95%CI:1.23~1.44，PC<0.051）。WT1*A5 的STR基因频率检测量到明显增多（OR=1.62，95%CI:1.18～2.23,PC<0.05）。基因型频率检测到WT1*010/010的频率明显增多（OR=6.28，95%CI:1.81～21.76，PC<0.05）。结论：WT1 等位基因在MM患者中具有高度多态性，WT1*010/010纯合子是MM的易感基因型，这表明MM的发生发展与WT1 基因的多态性相关。

[Abstract] Objective: To analyze the correlation between WT1 gene polymorphism and multiple myeloma (MM) susceptibility in 168 patients. Methods: One hundred and sixty eight MM patients, who were hospitalized in our hospital and Hebei Provincial People's Hospital from January 2013 to December 2017, were researched in this study. There were 121 males (72%) and 47 females(28%) with a median age of 62.4 years old (36~83 years old). Polymorphism of WT1 gene of the samples was detected and analyzed by SSP-PCR and SBT-PCR. Results: Eleven WT1 alleles were detected in MM patients, WT1*010 and WT1*012 alleles occupied a higher frequency in MM group (WT1*010: OR=6.13, 95%CI:3.5~10.75, PC<0.000; WT1*012: OR=2.06, 95%CI:1.23~1.44, PC<0.051). STR genotype frequency of WT1*A5 markedly increased (OR=1.62, 95%CI:1.18~2.23, PC<0.05). Genotype frequency of WT1*010/010 also obviously increased (OR=6.28, 95%CI:1.81～21.76, PC<0.05). Conclusion: WT1 allele is highly polymorphic in MM patients and homozygote WT1*010/010 is a susceptible genotype of MM, indicating that the occurrence and development of MM are related to the polymorphism of WT1 gene.

河北省中医药管理局科研计划项目（No.2019037）