[1]徐 娟a,贲海祥a,丁琳琳a,等.白细胞介素-1β 基因（rs16944）单核苷酸多态性与骨髓增生异常综合征易感性及临床特征的相关性研究[J].现代检验医学杂志,2023,38(04):51-58.[doi:10.3969/j.issn.1671-7414.2023.04.009]
　XU Juana,BEN Haixianga,DING Linlina,et al.Study on the Relationship between Single Nucleotide Polymorphism of Interleukin-1β (rs16944) Gene and Susceptibility and Clinical Characteristics of Myelodysplastic Syndromes[J].Journal of Modern Laboratory Medicine,2023,38(04):51-58.[doi:10.3969/j.issn.1671-7414.2023.04.009]
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白细胞介素-1β 基因（rs16944）单核苷酸多态性与骨髓增生异常综合征易感性及临床特征的相关性研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第38卷
期数:
2023年04期
页码:
51-58
栏目:
论著
出版日期:
2023-07-15

文章信息/Info

Title:
Study on the Relationship between Single Nucleotide Polymorphism of Interleukin-1β (rs16944) Gene and Susceptibility and Clinical Characteristics of Myelodysplastic Syndromes
文章编号:
1671-7414（2023）04-051-08
作者:
徐 娟a; 贲海祥a; 丁琳琳a; 蔡亚云a; 陈 婷a; 姜 铭b
（如皋市人民医院 a. 血液科；b. 检验科，江苏如皋 226500）
Author(s):
XU Juana;  BEN Haixianga;  DING Linlina;  CAI Yayuna;  CHEN Tinga;  JIANG Mingb
（a. Department of Hematology; b. Department of Clinical Laboratory, Rugao People's Hospital, Jiangsu Rugao 226500, China）
关键词:
白细胞介素-1β; 白细胞介素-1β 基因（rs16944）多态性; 骨髓增生异常综合征
分类号:
R551.3；Q786
DOI:
10.3969/j.issn.1671-7414.2023.04.009
文献标志码:
A
摘要:
目的　探究白细胞介素-1β（IL-1β）rs16944 单核苷酸多态性（SNP）与骨髓增生异常综合征（MDS）易感性及临床特征的相关性。方法　选择2017 年9 月～ 2020 年1 月如皋市人民医院收治的MDS 患者（n=162）为研究对象，同期体检健康者（n=162）为正常对照组。采用TaqMan 探针法进行基因分型。对比分析IL-1β（rs16944）SNP与MDS 易感性及临床特征。随访观察不同基因型MDS 患者向急性髓系白血病（AML）转化情况，并采用Kaplan-Meier 绘制生存曲线。结果　与正常组比较，MDS 组GG 基因频率（43.21% vs 32.10%）、AG 基因频率（37.04% vs26.54%）、G 等位基因频率（86.42% vs 69.75%）均显著升高（P<0.05）。对于MDS 发生风险，G 等位基因携带者比未携带者增加34.80%[OR(95%CI)：1.348(1.06~1.72)]，而GG 型基因携带者是未携带者的1.75 倍。多因素COX 回归分析结果显示，IL-1β（rs16944）基因GG 型、染色体核型预后不良、国际预后积分系统（IPSS）危险分组中危-II及以上、IPSS-R 危险分组高危及以上、中性粒细胞绝对计数（ANC）<1.6×109/L、血红蛋白（HGB）<71.7 g/L、血小板（PLT）<93.0×109/L 均为MDS 患者预后不良的危险因素（HR=1.677~6.194，均P<0.05）。Logistic 回归分析结果显示，ANC，HGB 以及PLT 均与IL-1β（rs16944）SNP 存在交互作用。MDR 法结果显示，对于MDS 发生风险，具有ANC，HGB 以及PLT 水平异常和IL-1β（rs16944）基因多态性交互组合人群是非上述组合人群的2.70 倍[OR(95%CI)：2.70(2.06~3.52)]。MDS 患者IL-1β（rs16944）基因GG 型向AML 转化概率（27.50%）显著高于AG 型（8.93%）和AA 型（7.69%），差异有统计学意义（χ2=7.140，4.396，P=0.008，0.036）。IL-1β（rs16944）基因GG型（56.25%）患者总生存（OS）率显著低于AG 型（73.21%）和AA 型（80.77%），差异有统计学意义（χ2=4.028，5.021，P=0.048，0.025）。结论　MDS 患者IL-1β（rs16944）基因GG 型较常见且与MDS 易感性以及临床特征密切相关，可通过IL-1β（rs16944）基因检测预测个体MDS 发生风险以及预后评估。
Abstract:
Objective　To explore the correlation between interleukin-1β (IL-1β) (rs16944) single nucleotide polymorphism (SNP) and susceptibility and clinical characteristics of myelodysplastic syndrome (MDS). Methods　The subjects were MDS patients（n=162）admitted to Rugao People’s Hospital from September 2017 to January 2020, and the healthy people （n=162） in the same period were the normal control group. TaqMan probe was used for genotyping. The susceptibility and clinical characteristics of IL-1 (rs16944) SNP and MDS were compared and analyzed. Followed up and observe the conversion of MDS patients with different genotypes to acute myelogenous leukemia (AML), and used Kaplan-Meier to draw the survival curve. Results　Compared with the normal group, the frequency of GG gene (43.21% vs 32.10%), AG gene (37.04% vs 26.54%) and G allele (86.42% vs 69.75%) in MDS group were significantly higher (P<0.05). For the risk of MDS, the G allele carriers increased by 34.80% [OR(95%CI): 1.348(1.06~1.72)] compared with the non carriers, while the GG genotype carriers were 1.75 times higher than the non carriers. Multivariate COX regression analysis showed that IL-1β (rs16944) gene GG type, poor prognosis of chromosome karyotype, medium risk group of international prognostic scoring system (IPSS)-II and above, high risk group of IPSS-R and above, absolute neutrophil count (ANC)<1.6×109/L, haemoglobin (HGB)<71.7 g/L , platelet (PLT)<93.0×109/L were all risk factors for poor prognosis of MDS patients (HR=1.677~6.194, all P<0.05). Logistic regression analysis showed that ANC, HGB and PLT all interacted with IL-1β (rs16944) SNP. The results of MDR method showed that for the risk of MDS, the population with abnormal ANC, HGB and PLT levels and IL-1 β (rs16944) gene polymorphism were 2.70 times [OR(95%CI): 2.70(2.06~3.52)] as many as those without the above combination. The transformation probability of IL-1β (rs16944) GG genotype to AML (27.50%) was significantly higher than that of AG genotype (8.93%) and AA genotype (7.69%), the differences were statistically significant(χ2=7.140, 4.396, P=0.008, 0.036). The overall survival (OS) rate of patients with IL-1 β (rs16944) GG genotype (56.25%) was significantly lower than that of patients with AG genotype (73.21%) and AA genotype (80.77%), the differences were statistically significant( χ2=4.078, 5.021, P=0.043, 0.025). Conclusion　GG genotype of IL-1β (rs16944) gene was common and closely related to MDS susceptibility and clinical characteristics of MDS patients, and IL-1β (rs16944) gene detection can be used to predict the risk of individual MDS and evaluate the prognosis.

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备注/Memo

备注/Memo:
作者简介：徐娟（1977-），女，本科，副主任医师，研究方向：多发性骨髓瘤、骨髓增生异常综合征，E-mail：fusixie2319@163.com。
更新日期/Last Update: 2023-07-15