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目的探讨VARS2(valyl-tRNA synthetase 2)基因中单核苷酸多态性位点(single nucleotide polymorphisms,SNP)rs2249464与广东省汉族女性散发性乳腺癌的相关性。方法采用MassARRAY-IPLEX SNP分型技术,以南方医科大学南方医院的216例广东汉族乳腺癌患者及216例同期健康体检者为研究对象,对rs2249464多态性位点进行基因分型,利用χ2检验统计分析病例组和对照组的基因型频率有无差异,利用非条件Logistic回归计算比数比(odds ratio,OR)和95%可信区间(confidence interval,CI)来评价此位点多态性与乳腺癌的相关性。然后进一步将病例组按雌激素受体(estrogen receptor,ER)和孕激素受体(progesterone receptor,PR)免疫组化结果行分层分析。结果 rs2249464位点C/C,C/T,T/T 3种基因型分布在对照组和病例组之间有统计学差异。根据免疫组化情况进一步分层分析结果表明rs2249464的基因型分布在ER阳性/阴性组之间的差异无统计学意义(P>0.05);但在PR阳性/阴性组之间的差异有统计学意义(P<0.05)。结论 VARS2基因rs2249464位点单核苷酸多态性与广东汉族散发性乳腺癌的易感性具有相关性,且携带T/T基因型的患者更容易罹患PR阴性乳腺癌。
Objective To investigate the association between single nucleotide polymorphisms (SNP) rs2249464 in VARS2 gene and sporadic breast cancer in Han women of Guangdong province. Methods Genotypes of rs2249464 polymorphism were genotyped using MassARRAY-IPLEX SNP typing technique in 216 Han Chinese patients with breast cancer from Southern Hospital of Southern Medical University and 216 healthy subjects at the same period. Chi-square To test the statistical analysis of genotype frequency of case group and control group, the odds ratio (OR) and 95% confidence interval (CI) were calculated by using non-conditional Logistic regression to evaluate the polymorphism of this locus Correlation between sex and breast cancer. The cases were further stratified by immunohistochemistry of estrogen receptor (ER) and progesterone receptor (PR). Results The genotype distributions of C / C, C / T and T / T rs2249464 were statistically different between the control group and the case group. According to the results of immunohistochemistry, further stratification analysis showed that rs2249464 genotype distribution was not significantly different between ER positive and negative groups (P> 0.05), but there was a statistically significant difference between PR positive and negative groups Significance (P <0.05). Conclusion The single nucleotide polymorphism of rs2249464 in VARS2 gene is associated with the susceptibility of sporadic breast cancer in Guangdong Han population. Patients with T / T genotype are more likely to have PR-negative breast cancer.