[1]玉丽林,李锦宏,杨静梅,等.鼠双微粒体2 基因 rs1625525 和rs1196336 位点基因多态性与乳腺癌遗传易感性的相关性研究[J].现代检验医学杂志,2023,38(02):52-56.[doi:10.3969/j.issn.1671-7414.2023.02.010 ]
 YU Li-lin,LI Jin-hong,YANG Jing-mei,et al.Association between Murine Double Minute2 Gene rs1625525 and rs1196336 Gene Polymorphisms and Genetic Susceptibility to Breast Cancer[J].Journal of Modern Laboratory Medicine,2023,38(02):52-56.[doi:10.3969/j.issn.1671-7414.2023.02.010 ]
点击复制

鼠双微粒体2 基因 rs1625525 和rs1196336 位点基因多态性与乳腺癌遗传易感性的相关性研究()
分享到:

《现代检验医学杂志》[ISSN:/CN:]

卷:
第38卷
期数:
2023年02期
页码:
52-56
栏目:
论著
出版日期:
2023-03-15

文章信息/Info

Title:
Association between Murine Double Minute2 Gene rs1625525 and rs1196336 Gene Polymorphisms and Genetic Susceptibility to Breast Cancer
文章编号:
1671-7414(2023)02-052-05
作者:
玉丽林李锦宏杨静梅陈文艳刘志昂
(中国人民解放军联勤保障部队第九二三医院检验科,南宁 530020)
Author(s):
YU Li-lin LI Jin-hong YANG Jing-mei CHEN Wen-yan LIU Zhi-ang
(Department of Clinical Laboratory, the 923rd Hospital of the Joint Logistic Support Force of the Chinese People’s Liberation Army, Nanning 530020, China)
关键词:
鼠双微粒体 2基因基因多态性乳腺癌遗传易感性
分类号:
R737.9;R730.43
DOI:
10.3969/j.issn.1671-7414.2023.02.010
文献标志码:
A
摘要:
目的 探讨鼠双微粒体 2(murine double minute 2,MDM2)基因 rs1625525,rs1196336两个位点多态性与乳腺癌遗传易感性的关系。方法 选取 2021年 1月~12月中国人民解放军联勤保障部队第九二三医院收治的乳腺癌患者 176例,乳腺良性瘤患者 156例,同期女性健康体检者 203例作为研究对象,采用多重 SNaPshot技术检测 MDM2基因 rs1625525A/G和 rs1196336A/T两个位点的基因多态性,比较各组两位点基因型和等位基因频率,分析两个位点多态性与乳腺癌遗传易感性的关系。结果 MDM2基因 rs1625525位点的 AA,AG和 GG基因型在乳腺癌组的基因型频率分别为 48.9%,39.2%和 11.9%,在对照组的基因型频率分别为 50.7%,44.3%和 5.0%。三种基因型在对照组与乳腺癌组分布频率差异有统计学意义(χ2=6.314,P<0.05), GG基因型和隐性模型可能增加乳腺癌的患病风险 (OR=2.522, 95%CI:1.115~5.708,P=0.026;OR=2.699,95%CI:1.221~5.966,P=0.014)。 rs1196336位点在共显性模型、显性模型、隐性模型和等位基因模型与乳腺癌患病风险均无明显相关性(OR=1.045,95%CI:0.686~1.591;OR=1.048, 95%CI:0.402~2.728; OR=1.045,95%CI:0.694~1.574; OR=1.026,95%CI:0.403~2.613;OR=1.031, 95%CI:0.747~1.423,均 P>0.05)。结论 MDM2基因 rs1625525位点 GG基因型和隐性模型可能增加乳腺癌的患病风险 , rs1196336位点基因多态性与乳腺癌的发病风险无明显相关性。
Abstract:
Objective To investigate the relationshif murine double minute2 (MDM2)gene rs1625525 and rs1196336 and the genetic susceptibility of breast cancer. Methods From January 2021 to December 2021, 176 breast cancer patients, 156 breast benign tumor patients, and 203 female healthy people who were admitted to the 923rd Hospital of the PLA Joint Logistic Support Forcey were selected as the research objects. Multiplex SNaPshot technique was used to detect the gene polymorphism of MDM2 gene rs1625525A/G and rs1196336A/T, the genotypes and allele frequencies of the two loci in each group were compared, and the relationship between polymorphisms of the two loci and genetic susceptibility to breast cancer was analyzed. Results The frequencies of AA, AG and GG genotypes at rs1625525 of MDM2 gene were 48.9%, 39.2% and 11.9% in breast cancer group, and 50.7%, 44.3% and 5.0% in control group, respectively. The three genotypes had statistically significant differences in the distribution frequencies of the control group/breast cancer group (χ2=6.314, P<0.05), and the GG genotype and recessive model may increase the risk of breast cancer (OR=2.522, 95 %CI: 1.115~5.708, P=0.026; OR=2.699, 95%CI: 1.221~5.966, P=0.014). There was no significant correlation between the rs1196336 locus and the risk of breast cancer in the co-dominant model, dominant model, recessive model, and allele model (OR=1.045, 95%CI: 0.686~1.591; OR =1.048, 95%CI: 0.402~2.728; OR=1.045, 95%CI: 0.694~1.574; OR =1.026, 95%CI: 0.403~2.613; OR=1.031, 95%CI: 0.747~1.423, all P>0.05). Conclusion MDM2 gene rs1625525 locus GG genotype and recessive model may increase the risk of breast cancer, and rs1196336 gene polymorphism has no significant correlation with the risk of breast cancer.

参考文献/References:

[1] SUNG H, FERLAY J, SIEGEL R L, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA-A Cancer Journal for Clinicians, 2021, 71(3): 209-249.
[2] 郑荣寿 , 孙可欣 , 张思维 , 等.2015年中国恶性肿瘤流行情况分析 [J].中华肿瘤杂志 , 2019, 41(1): 19-28. ZHENG Rongshou, SUN Kexin, ZHANG Siwei, et al. Report of cancer epidemiology in China, 2015 [J]. Chinese Journal of Oncology, 2019, 41(1): 19-28.
[3] HUUN J, GANSMO L B, MANNS?KER B, et al. Impact of the MDM2 splice-variants MDM2-A, MDM2-B and MDM2-C on cytotoxic stress response in breast cancer cells[J]. BMC Cell Biology, 2017, 18(1):17.
[4] 中国抗癌协会乳腺癌专业委员会.中国抗癌协会乳腺癌诊治指南与规范 (2019年版 )[J].中国癌症杂志 , 2019, 29(8): 609-680. Professional Committee for Chinese Anti-Cancer Association of Breast Cancer. Chinese Anti-Cancer association guidelines and specifications for breast cancer diagnosis and treatment(2019 edition)[J]. China Oncology, 2019, 29(8): 609-680.
[5] 靳庆娥 , 苏建荣.北京地区汉族女性人群 SYK基因启动子区 -803A>T(rs290987)单核苷酸多态性与乳腺癌易感性分析 [J].现代检验医学杂志, 2018, 33 (2): 5-7. JIN Qing’e, SU Jianrong. Associations of SYK promoter-803a >T(rs290987) single nucleotide polymorphisms with susceptibility to breast cancer of Han female population in Beijing area[J]. Journal of Modern Laboratory Medicine, 2018, 33(2): 5-7.
[6] HUSS L, BUTT S T, ALMGREN P, et al. SNPs related to vitamin D and breast cancer risk: a case-control study[J]. Breast Cancer Research, 2018, 20(1): 1.
[7] GAO Chundi, ZHUANG Jing, ZHOU Chao, et al. SNP mutation-related genes in breast cancer for monitoring and prognosis of patients: A study based on the TCGA database[J]. Cancer Medicine, 2019, 8(5): 2303-2312.
[8] CAHILLY-SNYDER L, YANG-FENG T, FRANCKE U, et al. Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line[J]. Somatic Cell and Molecular Genetics, 1987, 13(3): 235-244.
[9] OLINER J D, KINZLER K W, MELTZER P S, et al. Amplification of a gene encoding a p53-associated protein in human sarcomas[J]. Nature, 1992, 358(6381): 80-83.
[10] MOMAND J, ZAMBETTI G P. Mdm-2:“big brother”of p53[J]. Journal of Cellular Biochemistry, 1997, 64(3): 343-352.
[11] IWAKUMA T, LOZANO G. MDM2, an introduction[J]. Molecular Cancer Research, 2003, 1(14): 993-1000.
[12] HONDA R, TANAKA H, YASUDA H. Oncoprotein MDM2 is a ubiquitin ligase E3 for tumor suppressor p53[J]. FEBS Letters, 1997, 420(1): 25-27.
[13] RODRíGUEZ C, RAMOS-ARAQUE M E, DOMíNGUEZ-MARTíNEZ M, et al. Single-nucleotide polymorphism 309T>G in the MDM2 promoter determines functional outcome after stroke[J]. Stroke, 2018, 49(10): 2437-2444.
[14] WANG Bo, WU Suzhen, LIU Jin, et al. Development of selective small molecule MDM2 degraders based on nutlin[J]. European Journal of Medicinal Chemistry, 2019, 176: 476-491.
[15] RAYBURN E, ZHANG Ruiwen, HE Jie, et al. MDM2 and human malignancies: expression, clinical pathology, prognostic markers, and implications for chemotherapy[J]. Current Cancer Drug Targets, 2005, 5(1): 27-41.
[16] 武亚运 , 董晓强 , 王勇攀 , 等 .MDM2基因启动子区 rs2279744位点单核苷酸多态性与乳腺癌发病关系的 Meta分析 [J].中国普通外科杂志 , 2017, 26(11): 1422-1430. WU Yayun, DONG Xiaoqiang, WANG Yongpan, et al. Association between single nucleotide polymorphisms of rs2279744 locus in MDM2 promoter region and risk of breast cancer: a Meta-analysis[J]. Chinese Journal of General Surgery, 2017, 26(11): 1422-1430.
[17] MIEDL H, LEBHARD J, EHART L, et al. Association of the MDM2 SNP285 and SNP309 genetic variants with the risk, age at onset and prognosis of breast cancer in central European women: A Hospital-based case-control study[J]. International Journal of Molecular Sciences, 2019, 20(3): 509.
[18] GALLEGOS-ARREOLA M P, MáRQUEZ-ROSALES M G, SáNCHEZ-CORONA J, et al. Association of the Del1518 promoter (rs3730485) polymorphism in the MDM2 gene with breast cancer in a Mexican population[J]. Annals of Clinical and Laboratory Science, 2017, 47(3): 291-297.
[19] 王杰玲. MDM2基因 rs937283位点与癌症发病风险的关联研究 [D].武汉:武汉理工大学 , 2019. WANG Jieling. Association of MDM2 gene rs937283 locus with cancer risk [D]. Wuhan :Wuhan University of Technology, 2019.
[20] HELWA R, GANSMO L B, ROMUNDSTAD P, et al. MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer[J]. Scientific Reports, 2016, 6: 33153.

相似文献/References:

[1]陈晓露.白细胞介素4基因多态性与结直肠癌的易感性[J].现代检验医学杂志,2015,30(05):105.[doi:10.3969/j.issn.1671-7414.2015.05.032]
 CHEN Xiao-lu.Interleukin-4 Gene Polymorphisms and Colorectal Cancer Susceptibility[J].Journal of Modern Laboratory Medicine,2015,30(02):105.[doi:10.3969/j.issn.1671-7414.2015.05.032]
[2]朱琴芳,丁倩倩,俞钱,等.CD40-1C/T基因多态性与系统性红斑狼疮的相关性研究[J].现代检验医学杂志,2015,30(06):46.[doi:10.3969/j.issn.1671-7414.2015.06.013]
 ZHU Qin-fang,DING Qian-qian,YU Qian,et al.Association of CD40 Gene Polymorphism with the Systemic Lupus Erythematosus[J].Journal of Modern Laboratory Medicine,2015,30(02):46.[doi:10.3969/j.issn.1671-7414.2015.06.013]
[3]黄生金,郑利平,陆俊佳,等.广西地区壮族和汉族冠心病患者胱抑素C水平及其基因多态性的比较研究[J].现代检验医学杂志,2017,32(03):26.[doi:10.3969/j.issn.1671-7414.2017.03.007]
 HUANG Sheng-jin,ZHENG Li-ping,LU Jun-jia,et al.Comparative Study of Cystatin C and Its Gene Polymorphism of Pati ents with Coronary Heart Disease between Zhuang and Han in Guangxi Region[J].Journal of Modern Laboratory Medicine,2017,32(02):26.[doi:10.3969/j.issn.1671-7414.2017.03.007]
[4]曹云,周晓,张晓艳,等.陕西省延安地区育龄女性MTHFR基因多态性和国内多地区相关报道比较分析2)[J].现代检验医学杂志,2019,34(01):62.[doi:10.3969/j.issn.1671-7414.2019.01.016]
 CAO Yun,ZHOU Xiao,ZHANG Xiao-yan,et al.Comparative Analysis of MTHFR Gene Polymorphisms in Women of Childbearing Age in Yan’an Area of Shaanxi Province and Related Reports in Many Regions in China[J].Journal of Modern Laboratory Medicine,2019,34(02):62.[doi:10.3969/j.issn.1671-7414.2019.01.016]
[5]滕祥云,王新梦,刘 维,等.中国汉族结直肠癌患者 UGT1A1*28基因多态性分析[J].现代检验医学杂志,2019,34(06):20.[doi:10.3969 / j.issn.1671-7414.2019.06.005]
 TENG Xiang-yun,WANG Xin-meng,LIU Wei,et al.Polymorphism of UGT1A1*28 Gene in Han Patients with Colorectal Cancer in China[J].Journal of Modern Laboratory Medicine,2019,34(02):20.[doi:10.3969 / j.issn.1671-7414.2019.06.005]
[6]周 琰,王蓓丽,张春燕,等.消化道肿瘤患者MTHFR 基因多态性与5- 氟尿嘧啶化疗不良反应的相关性研究[J].现代检验医学杂志,2020,35(03):1.[doi:10.3969/j.issn.1671-7414.2020.03.001]
 ZHOU Yan,WANG Bei-li,ZHANG Chun-yan,et al.Relationship between MTHFR Gene Polymorphisms and Adverse Events by 5-FU in Gastrointestinal Cancer[J].Journal of Modern Laboratory Medicine,2020,35(02):1.[doi:10.3969/j.issn.1671-7414.2020.03.001]
[7]洪雄新,李观强,杨 辉,等.2 型糖尿病患者ABCA1 R219K 基因多态性分布及其与血脂水平的相关性研究[J].现代检验医学杂志,2020,35(04):14.[doi:10.3969/j.issn.1671-7414.2020.04.004]
 HONG Xiong-xin,LI Guan-qiang,YANG Hui,et al.Study on Distribution of ABCA1 R219K Gene Polymorphism and Its Correlation with Blood Lipid Levels for Type 2 Diabetes Mellitus Patients[J].Journal of Modern Laboratory Medicine,2020,35(02):14.[doi:10.3969/j.issn.1671-7414.2020.04.004]
[8]杨小柯,何柳媚,全湛柔,等.深圳地区人群乙型肝炎病毒携带者HLA-DRB1 等位基因多态性及关联性分析[J].现代检验医学杂志,2020,35(05):5.[doi:10.3969/j.issn.1671-7414.2020.05.002]
 YANG Xiao-ke,HE Liu-mei,QUAN Zhan-rou,et al.Analysis of Allelic Polymorphism and Association of HLA-DRB1 in Hepatitis B Virus Carriers in Shenzhen[J].Journal of Modern Laboratory Medicine,2020,35(02):5.[doi:10.3969/j.issn.1671-7414.2020.05.002]
[9]张姝,罗洁,许琦,等.贵州地区汉族阿尔茨海默症患者CYP2C19 基因多态性及代谢表型分析[J].现代检验医学杂志,2020,35(05):13.[doi:10.3969/j.issn.1671-7414.2020.05.004]
 ZHANG Shu,LUO Jie,XU Qi,et al.Analysis of CYP2C19 Gene Polymorphism and Metabolic Phenotype in Alzheimerdisease Patients of Han Nationality in Guizhou[J].Journal of Modern Laboratory Medicine,2020,35(02):13.[doi:10.3969/j.issn.1671-7414.2020.05.004]
[10]师文涛,白 蓉,黄剑林,等.陕西省延安地区汉族与国内其他地区育龄妇女 MTHFR 基因 C677T 位点基因型和等位基因分布研究[J].现代检验医学杂志,2020,35(06):78.[doi:doi:10.3969/j.issn.1671-7414.2020.06.019]
 SHI Wen-tao,BAI Rong,HUANG Jian-lin,et al.Comparative Study on MTHFR Gene C677T Locus Genotype and AlleleDistribution between Han Nationality and Women of ChildbearingAge in Yan’an Area of Shaanxi Province[J].Journal of Modern Laboratory Medicine,2020,35(02):78.[doi:doi:10.3969/j.issn.1671-7414.2020.06.019]

备注/Memo

备注/Memo:
收稿日期:2022-08-29修回日期:2022-11-30
基金项目:广西壮族自治区卫生健康委员会自筹课题(Z20210295)。
作者简介:玉丽林(1987-)女,硕士研究生,主管技师,研究方向:临床检验诊断学, E-mail:531748701@qq.com。
通讯作者:刘志昂(1972-),男,本科,副主任技师, E-mail:gxnnlza@163.com。

更新日期/Last Update: 2023-03-15