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目的研究CYP19基因rs10046位点单核苷酸多态性(single nucleotide polymorphism,SNP)与新疆维吾尔族乳腺癌易感性及临床病理特征的关系。方法采用病例对照研究,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测173例维吾尔族女性乳腺癌患者和196例正常维吾尔族女性CYP19基因rs10046位点基因型多态性,采用χ2检验和非条件Logistic回归进行基因多态性与乳腺癌的发病及临床病理特征的关系分析。结果病例组CYP19基因rs10046(C/T)位点CC、TC和TT基因型的频率分别为26.59%、45.09%和28.32%,对照组CC、TC和TT分别为33.16%、48.98%和17.86%,两组差异有统计学意义,χ2=6.038,P=0.048;病例组C、T等位基因频率分别为49.13%和50.87%;对照组C、T等位基因频率分别为57.65%和42.35%,两组差异有统计学意义,χ2=5.365,P=0.025。以CC为对照TT型者增加乳腺癌的发生风险,P<0.05(OR值为2.135,95%CI:1.12~4.067),而TC+TT型则没有增加乳腺癌风险。体质量指数≥25kg/m2、未绝经及绝经年龄≥50岁为乳腺癌发病因素。分层显示,对CYP19基因rs10046(C/T)位点体质量指数≥25kg/m2、未绝经及绝经年龄≥50岁组中至少携带1个突变等位基因(CT+TT)的患者发病风险的OR值增高,分别为2.113(95%CI:1.4~3.2)、1.911(95%CI:1.2~2.8)和2.806(95%CI:1.9~4.4);为乳腺癌发病的危险因素;而与ER、PR、HER-2和Ki-67的表达无关,P>0.05。结论 CYP19rs10046位点基因SNP与维吾尔族女性乳腺癌发病有关,该位点TT基因型携带者显著增加乳腺癌发病风险,对于体质量指数≥25kg/m2、未绝经及绝经年龄≥50岁者风险增加。rs10046位点基因分布与提示预后的ER、PR、HER-2和Ki-67等病理指标的表达无关。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) of rs10046 of CYP19 gene and the susceptibility and clinicopathological features of Uighur breast cancer in Xinjiang Uygur Autonomous Region. Methods A case-control study was conducted. The rs10046 locus of CYP19 gene in 173 Uighur women with breast cancer and 196 normal Uygur women was genotyped by PCR-RFLP The relationship between gene polymorphisms and the incidence of breast cancer and its clinicopathological features using χ2 test and non - conditional logistic regression were analyzed. Results The frequencies of CC, TC and TT genotypes of rs10046 (C / T) locus in case group were 26.59%, 45.09% and 28.32%, respectively. The CC, TC and TT were 33.16%, 48.98% and 17.86% , The difference between the two groups was statistically significant (χ2 = 6.038, P = 0.048). The frequencies of C and T alleles were 49.13% and 50.87% respectively in the case group and 57.65% and 42.35% respectively in the control group , The difference between the two groups was statistically significant, χ2 = 5.365, P = 0.025. The risk of breast cancer increased with CC as control TT, P <0.05 (OR = 2.135, 95% CI: 1.12-4.067), while TC + TT did not increase the risk of breast cancer. Body mass index ≥ 25kg / m2, not menopausal and menopausal age ≥ 50 years old for breast cancer risk factors. Stratification showed that the patients with at least one mutation allele (CT + TT) in the CYP19 gene rs10046 (C / T) locus with body mass index ≥25kg / m2, OR of 2.113 (95% CI: 1.4-3.2), 1.911 (95% CI 1.2-2.8) and 2.806 (95% CI 1.9-1.4), respectively, were the risk factors for breast cancer; ER, PR, HER-2 and Ki-67 expression was not related, P> 0.05. Conclusion CYP19rs10046 gene SNP is associated with the incidence of Uighur women with breast cancer. TT genotype carriers at this locus significantly increased the risk of breast cancer. The risk of breast cancer was significantly higher for those with body mass index ≥25kg / m2, not menopausal and menopausal> 50 years old . rs10046 locus gene distribution and prognosis prompted the expression of ER, PR, HER-2 and Ki-67 and other pathological indicators have nothing to do.