中国临床药理学杂志

脑肿瘤患儿WTAP rs7766006位点遗传多态性与化疗毒性及临床预后的相关性研究

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刘正跃 ¹ , 孟令嘉 ¹ , 闫安 ¹ , 李苗 ¹^,² , 王淑梅 ¹

中国临床药理学杂志 | 临床与基础桥接研究 2026,42(7): 920-926

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中国临床药理学杂志 |临床与基础桥接研究 2026 , 42 (7) : 920 -926

脑肿瘤患儿WTAP rs7766006位点遗传多态性与化疗毒性及临床预后的相关性研究

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刘正跃¹, 孟令嘉¹, 闫安¹, 李苗¹^,², 王淑梅¹

作者信息

^1.首都医科大学附属北京世纪坛医院药学部，北京 100038

^2.首都医科大学附属北京世纪坛医院儿科，北京 100038

通讯作者:

王淑梅，主任药师，硕士生导师 Tel: （010）63926368 E-mail: wangshumei1980@126.com

作者简介:

刘正跃（1994-），药师，从事药事管理方面的工作和研究

Associations of WTAP rs7766006 polymorphisms on chemotherapy toxicities and clinical prognosis in children with brain tumors

Zheng-yue LIU¹, Ling-jia MENG¹, An YAN¹, Miao LI¹^,², Shu-mei WANG¹

Affiliations

^1.Department of Pharmacy, Beijing Shijitan Hospital, Capital Medical University, Beijing 100038, China

^2.Department of Pediatrics, Beijing Shijitan Hospital, Capital Medical University, Beijing 100038, China

出版时间: 2026-04-17 doi: 10.13699/j.cnki.1001-6821.2026.07.004

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摘要

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目的

探讨脑肿瘤儿童Wilms肿瘤1相关蛋白（WTAP）rs7766006位点遗传多态性对化疗毒性和临床预后的影响。

方法

将在我院进行化疗的脑肿瘤患儿入选为研究对象，应用基质辅助激光解吸电离飞行时间质谱平台完成患儿rs7766006位点基因型检测，收集化疗不良反应和肿瘤进展情况等临床资料，分析WTAP rs7766006 G>T多态性与化疗毒性和无进展生存期（PFS）的相关性，基于生物信息学分析探索WTAP在脑肿瘤中的表达及预后意义，以及rs7766006 G>T多态性调控WTAP表达的潜在机制。

结果

在纳入的107例脑肿瘤患儿群体中，rs7766006 GG纯合型、GT杂合型和TT纯合型分别占比40.19%（43例/107例）、44.86%（48例/107例）和14.95%（16例/107例）；G和T等位基因分别占比62.62%（134例/214例）和37.38%（80例/214例）。GG、GT和TT基因型组患儿的黏膜炎发生率分别为53.49%（23例/43例）、27.08%（13例/48例）和43.75%（7例/16例），3组的凝血障碍发生率分别为18.61%（8例/43例）、2.08%（1例/48例）和6.25%（1例/16例），GG与GT基因型相比以上2种化疗毒性的发生率，在统计学上差异均有统计学显著意义（均P<0.05），3组间其余化疗毒性的发生率在统计学上差异均无统计学显著意义（均P>0.05）。GG、GT和TT基因型组患儿的疾病进展发生率分别为65.12%（28例/43例）、43.75%（21例/48例）和62.50%（10例/16例），GG基因型患儿发生疾病进展的风险显著高于GT基因型患儿（P<0.05）。生信分析结果显示，脑肿瘤组织和正常对照组中WTAP的表达分别为6.00±0.66和4.63±1.34（P<0.001），WTAP高表达组和低表达组的中位总生存期分别为537和2 835 d（P<0.001）。rs7766006位点处于外显子剪接增强子区域内，可能通过影响可变剪接调控WTAP基因表达。

结论

WTAP rs7766006 GG基因型可能是脑肿瘤患儿发生黏膜炎、凝血障碍和疾病进展的危险因素。

关键词

脑肿瘤 / Wilms肿瘤1相关蛋白 / 单核苷酸多态性 / 化疗毒性 / 预后

Abstract

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Objective

To explore the effects of Wilms tumor 1-associating protein (WTAP) rs7766006 polymorphisms on chemotherapy toxicities and clinical prognosis in children with brain tumors.

Methods

Pediatric patients with brain tumors who received chemotherapy at our hospital were included as study subjects. Matrix-assisted laser desorption/ionization time of flight mass spectrometry was used for WTAP rs7766006 genotyping. Clinical data collected included chemotherapy toxicities and tumor progression. The associations of WTAP rs7766006 G>T polymorphisms with chemotherapy toxicities and progression-free survival (PFS) were analyzed. The expression of WTAP in brain tumors and its prognostic significance, and the potential mechanism of rs7766006 G>T polymorphisms in WTAP expression were explored based on bioinformatics methods.

Results

Among the 107 children with brain tumors included, the rs7766006 GG homozygous, GT heterozygous, and TT homozygous genotypes accounted for 40.19% (43 cases/107 cases), 44.86% (48 cases/107 cases) and 14.95% (16 cases/107 cases), respectively. The frequencies of G and T alleles were 62.62% (134 cases/214 cases) and 37.38% (80 cases/214 cases) respectively. The incidence rates of mucositis in the GG, GT, and TT genotype groups were 53.49% (23cases/43 cases), 27.08% (13 cases/48 cases) and 43.75% (7 caes/16 cases), respectively. The incidence rates of coagulation disorders in three groups were 18.61% (8 cases/43cases), 2.08% (1 case/48 cases) and 6.25% (1 case/16 cases), respectively. The difference in the incidence rates of the two chemotherapy toxicities mentioned above between the GG and GT genotypes was statistically significant (all P<0.05). However, there were no significant differences in the incidence of other chemotherapy toxicities among the three groups (all P>0.05). The disease progression rates for the GG, GT, and TT genotype groups were 65.12% (28 cases/43 cases), 43.75% (21 cases/48 cases), and 62.50% (10 cases/16 cases), respectively. The risk of disease progression in children with the GG genotype was significantly higher than in those with the GT genotype (P<0.05). Bioinformatics analysis showed that the WTAP expression in brain tumors 6.00±0.66 was significantly higher than that in normal tissues 4.63±1.34 (P<0.001). The median overall survivals for the WTAP high-expression group and the low-expression group were 537 and 2 835 days, respectively (P<0.001). The rs7766006 polymorphism was located in the exonic splicing enhancer site and possibly regulated WTAP expression by affecting alternative splicing.

Conclusion

WTAP rs7766006 GG genotype might be a risk factor for oral mucositis, coagulation disorders, and progression in children with brain tumors.

Key words

brain tumor / Wilms tumor 1-associating protein / single nucleotide polymorphism / chemotherapy toxicity / prognosis

引用本文

刘正跃, 孟令嘉, 闫安, 李苗, 王淑梅. 脑肿瘤患儿WTAP rs7766006位点遗传多态性与化疗毒性及临床预后的相关性研究. 中国临床药理学杂志, 2026 , 42 (7) : 920 -926 . DOI: 10.13699/j.cnki.1001-6821.2026.07.004

Zheng-yue LIU, Ling-jia MENG, An YAN, Miao LI, Shu-mei WANG. Associations of WTAP rs7766006 polymorphisms on chemotherapy toxicities and clinical prognosis in children with brain tumors[J]. Chinese Journal of Clinical Pharmacology, 2026 , 42 (7) : 920 -926 . DOI: 10.13699/j.cnki.1001-6821.2026.07.004

基金

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国家自然科学基金资助项目(81872926)

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2026年第42卷第7期

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文章信息

doi: 10.13699/j.cnki.1001-6821.2026.07.004

接收时间：2025-08-18
首发时间：2026-08-06
出版时间：2026-04-17

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收稿日期：2025-08-18

基金

国家自然科学基金资助项目(81872926)

作者信息

^1.首都医科大学附属北京世纪坛医院药学部，北京 100038

^2.首都医科大学附属北京世纪坛医院儿科，北京 100038

通讯作者:

王淑梅，主任药师，硕士生导师 Tel: （010）63926368 E-mail: wangshumei1980@126.com

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2种不同金属材料的力学参数

科 Family	属数 Number of genus	种数 Number of species	占总种数比例 Percentage of total species (%)	属 Genus	种数 Number of species	占总种数比例 Percentage of total species (%)
鹅膏菌科Amanitaceae	2	11	5.26	鹅膏菌属 Amanita	10	4.78
小菇科 Mycenaceae	2	12	5.74	丝盖伞属 Inocybe	5	2.39
多孔菌科 Polyporaceae	8	14	6.70	蜡蘑属 Laccaria	5	2.39
红菇科 Russulaceae	3	23	11.00	小皮伞属 Marasmius	6	2.87
				小菇属 Mycena	11	5.26
				光柄菇属 Pluteus	5	2.39
				红菇属 Russula	17	8.13
				栓菌属 Trametes	5	2.39

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