[1]郝文霞,李 婧,李真真,等.4种DNA修复基因SNPs与辐射诱导RAD54L基因甲基化相关性的实验研究[J].现代检验医学杂志,2026,41(03):65-68+79.[doi:10.3969/j.issn.1671-7414.2026.03.012]
　HAO Wenxia,LI Jing,LI Zhenzhen,et al.Experimental Research on the Correlation between SNPs in Four DNA Repair Genes and Radiation-Induced Methylation of the RAD54L Gene[J].Journal of Modern Laboratory Medicine,2026,41(03):65-68+79.[doi:10.3969/j.issn.1671-7414.2026.03.012]
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4种DNA修复基因SNPs与辐射诱导RAD54L基因甲基化相关性的实验研究()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第41卷
期数:
2026年03期
页码:
65-68+79
栏目:
论著
出版日期:
2026-05-13

文章信息/Info

Title:
Experimental Research on the Correlation between SNPs in Four DNA Repair Genes and Radiation-Induced Methylation of the RAD54L Gene
文章编号:
1671-7414（2026）03-065-05
作者:
郝文霞，李 婧，李真真，王思涵，魏子皓，张阳东
中国人民解放军火箭军特色医学中心研究部，北京 100088
Author(s):
HAO Wenxia，LI Jing，LI Zhenzhen，WANG Sihan，WEI Zihao，ZHANG Yangdong
Department of Research, the PLA Rocket Force Characteristic Medical Center, Beijing 100088, China
关键词:
DNA修复基因; 单核苷酸多态性; 电离辐射; 甲基化
分类号:
R786；R14
DOI:
10.3969/j.issn.1671-7414.2026.03.012
文献标志码:
A
摘要:
目的探索4种DNA修复相关基因单核苷酸多态性（SNP）与辐射诱导RAD54样（RAD54L）基因甲基化的关系，为早期发现辐射易感人群提供理论支撑。方法采集2024年4～6月中国人民解放军火箭军特色医学中心100名健康体检人员外周全血，每份样本分为2份，一份行1.0GyX线照射为辐照组，另一份未行照射为对照组。提取DNA，设计引物，采用NaHSO3试剂盒对甲基化待测样本进行预处理，应用核酸质谱仪分别对100份辐照组DNA进行共济失调毛细血管扩张突变基因（ATM）rs189037、人类X线修复交叉互补基因（XRCC3）rs1799794、腺苷酸二磷酸核糖转移酶基因（ADPRT）rs1136410和转化生长因子β1（TGF-β1）rs1982073基因分型检测和100份辐照组DNA及100份对照组DNA进行RAD54L基因目的片段CpG位点甲基化水平检测。采用Wilcoxon配对样本检验辐照前后，4个SNPs不同基因型在RAD54L基因不同CpG位点的变化。结果100份样本ATM基因rs189037、XRCC3基因rs1799794、ADPRT基因rs1136410和TGF-β1基因rs1982073位点的检出率分别为99%、98%、99%、97%。辐照后，rs189037的AA基因型个体、rs1799794TC基因型个体和rs1136410AG基因型个体的RAD54L基因CpG_1位点甲基化水平均升高（Z=-2.050、-2.061、-1.979，均P＜0.05）。辐照后，rs1982073TC基因型个体的RAD54L基因CpG_4位点甲基化水平升高（Z=-2.028，P＜0.05）。结论ATM基因rs189037的AA基因型、XRCC3基因rs1799794的TC基因型、ADPRT基因rs1136410的AG基因型和TGF-β1基因rs1982073的TC基因型可能是电离辐射的易感位点和基因型。
Abstract:
Objective To explore the relationship between single nucleotide polymorphisms (SNPs) in four DNA repair genes and radiation-induced methylation of RAD54 like (RAD54L) gene, thereby providing a theoretical basis for the early detection of radia-tion-sensitive populations. Methods Peripheral whole blood samples were collected from 100 individuals undergoing health exam-inations at the PLA Rocket Force Characteristic Medical Center from April 2024 to June 2024. Each sample was divided into two sets, one was irradiated with 1.0 Gy X-ray irradiation to form the irradiation group, and the other remained unirradiated to form the control group. DNA was extracted and primers were designed. The NaHSO3 reagent kit was used to pretreat the samples for methyl-ation analysis. A nucleic acid mass spectrometer was employed to analyze the DNA from the 100 irradiated samples for ataxia telan-giectasia-mutated gene (ATM）rs189037, the human X-ray repair cross-complementing gene 3 (XRCC3) rs1799794, ADP-ribose polymerase 1 (ADPRT) rs1136410 and transforming growth factor β1 (TGF-β1) rs1982073. 100 DNA samples of irradiated group and 100 samples of control group were analyzed for methylation levels at CpG sites within the target fragment of RAD54L. The Wilcoxon paired sample test was used to examine the changes in the different genotypes of the four SNPs at various CpG sites of the RAD54L gene before and after irradiation. Results The detection rate of the rs189037 site in the ATM gene, the rs1799794 site in the XRCC3 gene, the rs1136410 site in the ADPRT gene, and the rs1982073 site in the TGF-β1 gene in 100 samples were 99%, 98%, 99% and 97%, respectively. After irradiation(Z = -2.050, -2.061, -1.979, all P<0.05), individuals with the AA genotype at rs189037, individuals with the rs1799794 TC genotype , and individuals with rs1136410 AG genotype showed increased methyl-ation levels at the CpG_1 site of the RAD54L gene after irradiation (Z=-2.050, -2.061, -1.979, all P<0.05). Individuals with rs1982073 TC genotype showed increased methylationlevels at the CpG_4 site of the RAD54L gene after irradiation(Z=-2.028,P<0.05). Conclusions The AA genotype at ATM rs189037, the TC genotype at XRCC3 rs1799794, the AG genotype at ADPRT rs1136410, and the TC genotype at TGF-β1 rs1982073 may be susceptibility loci and genotypes for ionizing radiation.

参考文献/References:

[1] YIU W S, CHU T S M, MENG Y, et al. DNA repair ge-netics and the risk of radiation pneumonitis in patients with lung cancer: a systematic review and meta-analy-sis[J]. Clinical Oncology, 2024, 36(7): e182-e196.
[2] 中国抗癌协会肿瘤标志专业委员会.肿瘤DNA甲基化标志物检测及临床应用专家共识(2024版)[J].中国癌症防治杂志,2024,16(2):129-142. Tumor Marker Committee of Chinese Anti-Cancer As-sociation. Expert consensus on detection and clinical application of tumor DNA methylation markers(version 2024)[J]. Chinese Journal of Oncology Prevention and Treatment, 2024, 16(2): 129-142.
[3] 田雪蕾,封江彬,田梅,等.甲基化芯片检测电离辐射诱导人外周血淋巴细胞DNA甲基化水平的变化[J].癌变·畸变·突变,2019,31(6):434-439. TIAN X L, FENG J B, TIAN M, et al. Use of a methylation chip to detect DNA methylation in human peripher y blood lymphocytes exposed to ionizing radiation[J]. Carcinogene-sis,Teratogenesis & Mutagenesis, 2019, 31(6): 434-439.
[4] 郝文霞,宋丽杰,任召琪,等.电离辐射对RAD54L?SMC1B?INIP和HIST1H4K基因甲基化水平的影响[J].标记免疫分析与临床,2023,30(1):20-24, 132. HAO W X, SONG L J, REN Z Q, et al. Effects of ion izing radiation on the methylation level of RAD54L, SMC1B, INIP and HIST1H4K genes[J]. Labeled Immu-noassays and Clinical Medicine, 2023, 30(1): 20-24, 132.
[5] 郝文霞,张阳东,宋丽杰,等.核酸质谱技术对辐射相关基因单核苷酸多态性多重检测方法的构建及验证[J].现代检验医学杂志,2023,38(5):5-11. HAO W X, ZHANG Y D, SONG L J, et al. Establishment and validation of a multiple detection method for single nu-cleotide polymorphisms of genes associated with radiation using nucleic acid mass spectrometry technology[J]. Journal of Modern Laboratory Medicine, 2023, 38(5): 5-11.
[6] 张阳东,郝文霞,任召琪,等.DNA修复相关基因SNP与辐射致离体血微核率的相关性研究[J].联勤军事医学,2023,37(8):652-656. ZHANG Y D, HAO W X, REN Z Q, et al. Research on the correlation between SNP associated with DNA repair genes and blood micronucleus frequency in vitro in-duced by radiation[J]. Military Medicine of Joint Lo-gistics, 2023, 37(8): 652-656.
[7] 张阳东,宋秀军,高峥,等.核酸质谱仪检测单核苷酸多态性的临床应用[J].医疗卫生装备,2023,44(1):87-92. ZHANG Y D, SONG X J, GAO Z, et al. Clinical appli-cation of nucleic acid mass spectrometer for detection of single nucleotide polymorphism[J]. Chinese Medical Equipment Journal, 2023, 44(1): 87-92.
[8] 杨林林,蒋涛,隋亚鑫,等.DNA甲基化检测技术[J].标记免疫分析与临床,2020,27(5):898-904. YANG L L, JIANG T, SUI Y X, et al. DNA methylation detection technology[J]. Labeled Immunoassays and Clinical Medicine, 2020, 27(5): 898-904.
[9] MA L F, ZHANG Y, XU J, et al. Effects of ionizing ra-diation on DNA methylation patterns and their potential as biomarkers[J]. International Journal of Molecular Sciences, 2025, 26(7): 3342.
[10] 赵君彦,牛玉杰,钱雪莲.ATM基因单核苷酸多态性与职业性辐射致染色体损伤的相关性[J].检验医学,2016,31(6):442-448. ZHAO J Y, NIU Y J, QIAN X L. Correlation of the single nucleotide polymorphisms of ATM gene with oc-cupational radiation-induced chromosome damage[J]. Laboratory Medicine, 2016, 31(6): 442-448.
[11] GAO Y, SU Y P, LI X L, et al. ATM and TP53 poly-morphisms modified susceptibility to radiation-induced lens opacity in natural high background radiation area, China[J]. International Journal of Radiation Biology, 2022, 98(7): 1235-1242.
[12] GORI?AR K, DUGAR F, DOL?AN V, et al. NBN, RA-D51and XRCC3 polymorphisms as potential predictive bio-markers of adjuvant radiotherapy toxicity in early HER2-pos-itive breast cancer[J]. Cancers, 2022, 14(18): 4365.
[13] PASQUALETTI F, GONNELLI A, ORLANDI P, et al. Correction to: association of XRCC3 rs1799794 poly-morphism with survival of glioblastoma multiforme patients treated with combined radio-chemotherapy[J]. Investigational New Drugs, 2021, 39(4): 1166-1166.
[14] LARIONOV A V, SINITSKY M Y, DRUZHININ V G, et al. DNA excision repair and double-strand break repair gene polymorphisms and the level of chromosome aberration in children with long-term exposure to Radon[J]. International Journal of Radiation Biology, 2016, 92(8): 466-474.
[15] BLINOVA E A, KORECHENKOVA A V, YANI-SHEVSKAYA M A, et al. Effect of repair gene poly-morphism on the risk of malignant neoplasm devel-opment after chronic radiation exposure[J]. Doklady Biochemistry and Biophysics, 2025, 521(1): 254-260.
[16] ZENG H Y, WAN W N, LI J, et al. TGF-β1 +869T/C (rs1982073) gene polymorphism and susceptibility to rheuma-toid arthritis: updated systematic review and meta-analysis[J]. European Journal of Internal Medicine, 2021, 87: 66-74.
[17] REN L L, MIAO H, WANG Y N, et al. TGF-β as a master regulator of aging-associated tissue fibrosis[J]. Aging and Disease, 2023, 14(5): 1633-1650.
[18] BARNETT G C, ELLIOTT R M, ALSNER J, et al. Individ-ual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxici-ty[J]. Radiotherapy and Oncology, 2012, 105(3): 289-295.

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备注/Memo

备注/Memo:
基金项目：军队后勤面上项目（CEP21J009）。
作者简介：郝文霞（1989-），女，硕士，医师，研究方向：基础医学研究。E-mail：hwx14551@163.com。
通讯作者：张阳东（1970-），男，博士，主任技师，研究方向：基础医学研究。E-mail：zhangyd262@163.com。
更新日期/Last Update: 2026-05-15