PRRC2A基因单核苷酸多态性与江苏省汉族女性散发性乳腺癌易感性的相关性研究

潘琼; 金鑫; 张舒; 陈龙舟; 王金星; 宁颖

doi:10.3969/j.issn.1000-8179.20130750

PRRC2A基因单核苷酸多态性与江苏省汉族女性散发性乳腺癌易感性的相关性研究

doi: 10.3969/j.issn.1000-8179.20130750

潘琼^①,
金鑫^①,
张舒^①,
陈龙舟^②,
王金星^②,
宁颖^①, ,

①.
江苏省淮安市妇幼保健院临床遗传学产前诊断重点实验室（江苏省淮安市 223002）
②.
江苏省淮安市妇幼保健院乳腺外科

基金项目:

江苏省淮安市科技创新载体平台建设计划项目 HAP201016

详细信息

通讯作者:
宁颖 resening@163.com

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出版历程
- 收稿日期: 2013-05-17
- 修回日期: 2013-11-08

Correlation between single nucleotide polymorphisms of PRRC2A and susceptibility to sporadic breast cancer among Han women in Jiangsu Province

Qiong PAN^①,
Xin JIN^①,
Shu ZhANG^①,
LongZhou CHEN^②,
JinXin WANG^②,
Ying NING^{①
, ,}

①.
Laboratory of Medical Genetics, Huaian Maternal and Child Health Care Hospital, Huai'an
②.
Department of Breast Surgery, Huaian Maternal and Child Health Care Hospital, Huai'an

Funds:

the Huai'an Municipal Special Funds for Development Project of Technological Innovation and Platform Construction HAP201016

More Information

Corresponding author: Ying NING; E-mail: resening@163.com

摘要

摘要: 目的探讨主要组织相容性复合体内PRRC2A基因位点chr6_31697494与江苏省汉族女性散发性乳腺癌易感性的相关性。方法采用基质辅助激光解吸附电离飞行时间质谱（MALDI-TOF MS）基因分型技术，对214例乳腺癌患者（病例组）和212例健康对照者（对照组）的PRRC2A基因位点chr6_31697494进行基因分型，用χ²检验统计分析两组基因型和等位基因的频率，采用非条件Logistic回归分析，校正性别、年龄影响，计算比数比（OR）和95%可信区间（CI），评价多态性位点与乳腺癌遗传易感性的相关性。进一步将病例组按雌激素受体（ER）和孕激素受体（PR）免疫组织化学检测结果的不同进行分层分析。结果位点chr6_ 31697494基因型分布频率在病例-对照分组分析中差异无统计学意义（P>0.05）；但在ER阳性/阴性分组和PR阳性/阴性分组中差异有统计学意义（P < 0.05），杂合基因型（chr6_31697494，CT）和ER阳性及PR阳性乳腺癌均相关（OR=0.40，95%CI：0.33~0.47；OR=0.49，95%CI：0.43~0.57）。结论 PRRC2A基因位点chr6_31697494多态性与乳腺癌患病风险无明显相关性，但CT基因型与ER和PR阳性乳腺癌明显相关。
- PRRC2A /
- 乳腺癌 /
- 单核苷酸多态性 /
- 易感性
Abstract: Objective To investigate the correlation of single nucleotide polymorphisms (SNPs) in the PRRC2A gene with the susceptibility to sporadic breast cancer among Han women in Jiangsu Province, China. Methods Using the genotyping technique of matrix-assisted laser desorption-ionization time-of-flight mass spectrometry, we analyzed the polymorphisms of an SNP (chr6_ 31697494) in gene PRRC2A in 214 breast cancer patients and 212 healthy controls admitted to the Huaian Maternal and Child Health Care Hospital. The genotype frequencies were analyzed using a Chi-square test between the case and control groups. Unconditional logistic regression analysis for calculating the odds ratio (OR) and 95% confidence interval (95% CI) was conducted by analyzing the correlation between the susceptibility to breast cancer and genotypes. Additional analysis was then performed based on the immunohistochemical results of the estrogen receptor (ER) and progesterone receptor (PR). Results The genotype frequencies for chr6_31697494 between the case and control groups were not significantly different (P>0.05). Further analysis indicated that the genotype frequencies of the site were significantly different in the ER (+/-) groups or the PR (+/-) groups (P < 0.05). Heterozygous genotype (chr6_31697494, CT) was related to the breast cancers with ER (+) and PR (+) (OR=0.40, 95%CI: 0.33-0.47; OR=0.49, 95% CI: 0.43-0.57, respectively). Conclusion No significant difference was found between the polymorphism of chr6_31697494 in the PRRC2A gene and the susceptibility to breast cancer among Han women in Jiangsu Province. The heterozygous genotypes were associated with breast cancer tissues with ER (+) and PR (+).
- PRRC2A /
- breast cancer /
- single nucleotide polymorphism /
- susceptibility

HTML全文

表 1 PRRC2A基因chr6_31697494位点在乳腺癌病例组和对照组中的情况例（%）

Table 1. Results of PRRC2A chr6_31697494 polymorphism in the breast cancer group and control group （n％）

表 2 PRRC2A基因chr6_31697494位点在乳腺癌ER阴性/阳性组中的情况例（%）

Table 2. Results of PRRC2A chr6_31697494 polymorphism in the breast cancer ER-positive/-negative groups （n％）

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