[1]刘明超,冯会敏,刘泽鹏,等.CaSR基因rs17251221，rs60388536位点多态性与乳腺癌患者遗传易感性的关联分析[J].现代检验医学杂志,2025,40(04):24-28.[doi:10.3969/j.issn.1671-7414.2025.04.005]
　LIU Mingchao,FENG Huimin,LIU Zepeng,et al.Association between CaSR Gene rs17251221，rs60388563 Loci Polymorphisms and Genetic Susceptibility to Breast Cancer[J].Journal of Modern Laboratory Medicine,2025,40(04):24-28.[doi:10.3969/j.issn.1671-7414.2025.04.005]
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CaSR基因rs17251221，rs60388536位点多态性与乳腺癌患者遗传易感性的关联分析()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年04期
页码:
24-28
栏目:
论著
出版日期:
2025-07-15

文章信息/Info

Title:
Association between CaSR Gene rs17251221，rs60388563 Loci Polymorphisms and Genetic Susceptibility to Breast Cancer
文章编号:
1671-7414（2025）04-024-05
作者:
刘明超a，冯会敏b，刘泽鹏b，栗艳松b，姜秋霞b
（衡水市第二人民医院 a. 肿瘤内科二病区；b. 病理科，河北衡水 053000）
Author(s):
LIU Mingchaoa，FENG Huiminb，LIU Zepengb，LI Yansongb，JIANG Qiuxiab
(a. the Second Ward of the Department of Medical Oncology；b. Department of Pathology，Hengshui Second People’s Hospital，Hebei Hengshui 053000, China)
关键词:
钙敏感受体; 单核苷酸基因多态性; 乳腺癌; 遗传易感性
分类号:
R737.9；R730.43
DOI:
10.3969/j.issn.1671-7414.2025.04.005
文献标志码:
A
摘要:
目的 探究钙敏感受体(CaSR) 基因rs17251221，rs60388563 位点多态性与乳腺癌(BC) 患者遗传易感性的关联。方法 选取2022 年1 月～ 2024 年6 月衡水市第二人民医院收治的122 例乳腺癌患者为BC 组，同期健康体检者100 例为对照组。采用聚合酶链式反应(PCR) 检测两组患者CaSR 基因rs17251221，rs60388563 位点的多态性；对比两组临床资料、基因型分布及等位基因频率差异；非条件Logistic 回归模型分析CaSR 基因多态性与BC 患者遗传易感性的相关性。结果 BC 组家族史占比明显高于对照组（19.67% vs 4.00%），差异具有统计学意义（χ2=12.246，P ＜ 0.05）。CaSR 基因rs17251221，rs60388563 位点基因型在对照组、BC 组的分布均符合Hardy-Weinberg 平衡定律（χ2=0.087 ～ 1.202，均P ＞ 0.05）， 具有群体代表性。在矫正混杂因素后发现，rs17251221，rs60388563 位点在共显性模型下， 携带GG 基因型者发生BC 的风险明显增加（OR=1.493，95%CI=1.070~2.108；OR=1.483，95%CI=1.034~2.121）；rs17251221 位点在显性模型（AA vs GA+GG）和隐性模型（GG vs GA+AA）下，分别携带G 等位基因（OR=1.371，95%CI=1.023~1.824） 和A 等位基因（OR=0.524，95%CI=0.221~0.926） 与BC 发生风险显著相关(均P<0.05）；rs60388563 位点在显性模型（CC vs GC+GG）和隐性模型（GG vs GC+CC）下，分别携带G 等位基因（OR=1.245，95%CI=1.107~1.461）和C 等位基因（OR=0.682，95%CI=0.523~0.974）与BC 发生风险显著相关（均P<0.05）。结论CaSR 基因rs17251221，rs60388563 位点多态性与BC 易感性密切相关，且均是携带G 等位基因的个体BC 患病风险高。
Abstract:
Objective To investigate the relationship between calcium-sensing receptor (CaSR) gene rs17251221，rs60388563 loci polymorphisms and the genetic susceptibility of breast cancer (BC). Methods A total of 122 patients with breast cancer admitted to Hengshui Second People’s Hospital from January 2022 to June 2024 were selected as the BC group, and 100 healthy women without blood relationship at the same time were selected as the control group. The polymorphisms of CaSR gene rs17251221，rs60388563 loci were detected by polymerase chain reaction (PCR). The clinical data, genotype distribution and allele frequency were compared between the two groups. Non-conditional Logistic regression model was used to analyze the correlation between CaSR gene polymorphism and genetic susceptibility of BC patients. Results Comparing the general data of the two group, the proportion of family history of cancer in the BC group was significantly higher than that in the control group, and the difference was statistically significant (t=12.246, P<0.05). The genotype distribution of CaSR gene rs17251221 and rs60388563 loci in the control group and the BC group was consistent with the Hardy-Weinberg equilibrium law (χ2=0.087 ～ 1.202，P ＞ 0.05)，which was representative of the population. Under the co-dominant model of rs17251221 and rs60388563 loci, the risk of BC in GG genotype was significantly increased (OR=1.493, 95%CI=1.070~2.108；OR=1.483, 95%CI=1.034~2.121). Under the dominant model (AA vs GA+GG) and recessive model (GG vs GA+AA), the rs17251221 locus carrying G allele (OR=1.371, 95%CI=1.023~1.824) and A allele (OR=0.524, 95%CI=0.221~0.926) was significantly associated with the risk of BC (P<0.05). Under the dominant model (CC vs GC+GG) and recessive model (GG vs GC+CC), the rs60388563 locus carrying G allele (OR=1.245, 95%CI=1.107~1.461) and C allele (OR=0.682, 95%CI=0.523~0.974) was significantly associated with the risk of BC (P<0.05). Conclusion The rs17251221，rs60388563 loci polymorphisms of CaSR gene are closely related to BC susceptibility, and the risk of BC is high in individuals carrying G allele.

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备注/Memo

备注/Memo:
基金项目：衡水市科技计划项目，项目编号：2022014041Z。
作者简介：刘明超（1989-）男，本科，主治医师，从事肿瘤相关研究工作，E-mail：dgaRT971@163.com。
通讯作者：冯会敏（1982-）女，本科，主治医师。
更新日期/Last Update: 2025-07-15