CAJ | 학술논문

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。
목적：탐토주요조직상용성복합체내PRRC2A기인위점chr6_31697494여강소성한족녀성산발성유선암역감성적상관성。방법：채용기질보조격광해흡부전리비행시간질보（MALDI-TOF MS）기인분형기술，대214례유선암환자（병례조）화212례건강대조자（대조조）적PRRC2A기인위점chr6_31697494진행기인분형，용χ2검험통계분석량조기인형화등위기인적빈솔，채용비조건Logistic회귀분석，교정성별、년령영향，계산비수비（OR）화95%가신구간（CI），평개다태성위점여유선암유전역감성적상관성。진일보장병례조안자격소수체（ER）화잉격소수체（PR）면역조직화학검측결과적불동진행분층분석。결과：위점chr6_31697494기인형분포빈솔재병례-대조분조분석중차이무통계학의의（P>0.05）；단재ER양성/음성분조화PR양성/음성분조중차이유통계학의의（P<0.05），잡합기인형（chr6_31697494，CT）화ER양성급PR양성유선암균상관（OR=0.40，95%CI：0.33～0.47；OR=0.49，95%CI：0.43～0.57）。결론：PRRC2A기인위점chr6_31697494다태성여유선암환병풍험무명현상관성，단CT기인형여ER화PR양성유선암명현상관。
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 lo-gistic regression analysis for calculating the odds ratio (OR) and 95%confidence interval (95%CI) was conducted by analyzing the cor-relation between the susceptibility to breast cancer and genotypes. Additional analysis was then performed based on the immunohisto-chemical 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 suscepti-bility to breast cancer among Han women in Jiangsu Province. The heterozygous genotypes were associated with breast cancer tissues with ER (+) and PR (+).