BTNL2基因多态性与广东汉族女性乳腺癌易感性的相关性研究

Association of single nucleotide polymorphisms in BTNL2 gene with susceptibility of breast cancer in Guangdong women of Han Nationality

目的探讨位于基因BTNL2(butyrophilin-like2)位点chr6-32478813和chr6-32470723的单核苷酸多态性(single nucleotide polymorphisms,SNP)与广东汉族女性乳腺癌易感性的关系。方法采用MassARRAY-IPLEX SNP分型技术,以南方医科大学南方医院的216例广东汉族女性乳腺癌患者及216例同期女性健康体检者为研究对象,对以上2个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,非条件Logistic回归计算比数比(odds ratio,OR)和95%可信区间(confidence interval,CI),由此评价这两个位点多态性与乳腺癌的相关性。随后,将病例组按雌激素受体(estrogen receptor,ER)和孕激素受体(progesterone receptor,PR)免疫组化结果的不同进行进一步的分层分析。结果位点chr6-32478813和chr6-32470723基因型分布频率在病例-对照分组分析中无统计学差异(P>0.05);而进一步的分析发现这两位点的基因型分布频率在ER阴性(-)与ER阳性(+)乳腺癌分组中有一定的差别,但统计学意义不显著;在PR阴性(-)与PR阳性(+)分组中,差异有统计学意义(P<0.05),携带杂合基因型(chr6-32478813,CT;chr6-32470723,GA)的个体更倾向于PR(-)乳腺癌(OR=0.53,95%CI:0.29～0.94,P=0.028;OR=0.44,95%CI:0.19～0.99,P=0.043)。结论 BTNL2基因chr6-32478813和chr6-32470723位点多态性与乳腺癌患病风险均无明显相关性,但两位点的杂合基因型均与乳腺癌组织PR阴性(-)明显相关。

Objective To establish whether the single nucleotide polymorphisms（SNPs） in gene BTNL2 are associated with susceptibility of breast cancer in Guangdong women of Han Nationality. Methods The polymorphisms of two SNPs（chr6-32478813 and chr6-32470723） in gene BTNL2 were analyzed in 216 breast cancer patients and 216 healthy controls that were collected coinstantaneously from Nanfang Hospital of Southern Medical University via MassARRAY -IPLEX platform. The genotype frequencies were analyzed by Chi-square test between case and control groups. Unconditional Logistic regression analysis for calculating odds ratio（OR） and 95% confidence interval（95% CI） was carried through to analyze the associations between the susceptibility of breast cancer and genotypes and then additional analysis was carried upon the immunohistochemical results of estrogen receptor（ER） and progesterone receptor（PR）. Results The genotype frequencies were not significantly different between case and control groups for both chr6-32478813 and chr6-32470723（P 0.05）. Further analysis indicated the genotype frequencies of these two sites had difference in ER（＋/-） groups to some degree yet without statistically significance, while they were significantly different in PR（＋/-） groups（P 0.05）. Heterozygous genotypes（chr6-32478813, CT and chr6-32470723, GA） were related to breast cancer with PR（-）（OR=0.53, 95% CI： 0.29～0.94; OR=0.44, 95%CI： 0.19～0.99, respectively）. Conclusion There is no significant difference between the polymorphism of both chr6-32478813 and chr6-32470723 in gene BTNL2 and susceptibility of breast cancer in Guangdong women of Han Nationality while the heterozygous genotypes are associated with breast cancer tissue with PR（-）.