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目的研究成纤维细胞生长因子受体2(FGFR2)rs2981579基因多态性在青海地区汉、藏族乳腺癌患者及健康女性中的分布,初步探讨其与乳腺癌的相关性。方法收集青海地区汉、藏族乳腺癌患者及体检健康女性各120例,自外周血提取基因组DNA,经PCR扩增后以变性高效液相色谱分析(DHPLC)法对3组标本的FGFR2基因rs2981579位点进行分型。分析其与青海地区汉、藏族乳腺癌发病风险的关系。结果汉族乳腺癌患者CC,CT,TT频率分别为32.50%、44.17%和23.33%,与健康对照组的30.83%、46.67%、22.50%相比无统计学意义(P>0.05)。藏族乳腺癌患者CC,CT,TT频率分别为26.67%、50.83%和22.50%,与健康对照组的35.83%、51.67%、12.50%相比,CC/CT基因型无统计学意义(P>0.05),而TT基因型有统计学意义(χ2=4.16,P<0.05),与CC型比较,携带TT基因型妇女乳腺癌发生的危险性增加[OR=2.42,95%CI=(1.10,5.27)]。两民族间FGFR2 rs2981579基因的CC/CT基因型频率差异无统计学意义(P>0.05),而TT基因型频率差异有统计学意义(P<0.05)。结论 FGFR2 rs2981579TT基因型增加青海地区藏族妇女乳腺癌发病风险,汉、藏族间CC/CT基因型分布频率不存在差异,而TT基因型分布频率存在差异。
Objective To investigate the distribution of FGFR2 rs2981579 polymorphism in Chinese Han and Tibetan women with breast cancer and healthy women in Qinghai Province and to explore its relationship with breast cancer. Methods Genomic DNA was extracted from peripheral blood of 120 Han and Tibetan women in Qinghai province and healthy women. The genomic DNA was extracted from the peripheral blood of patients in Qinghai. The genomic DNA was extracted from the peripheral blood by PCR. The genotypes of rs2981579 of FGFR2 gene in three groups were analyzed by denaturing high performance liquid chromatography (DHPLC) Point to type. To analyze the relationship between Han and Tibetan women’s risk of breast cancer in Qinghai. Results The frequencies of CC, CT and TT in Han nationality patients with breast cancer were 32.50%, 44.17% and 23.33% respectively, which were not significantly different from those of healthy controls (30.83%, 46.67% and 22.50%, P> 0.05). The frequencies of CC, CT and TT in Tibetan patients with breast cancer were 26.67%, 50.83% and 22.50%, respectively. There was no significant difference in the CC / CT genotype between the control group and the healthy control group (35.83%, 51.67%, 12.50% ), While the TT genotype was statistically significant (χ2 = 4.16, P <0.05). Compared with CC genotype, the risk of breast cancer in TT genotype women increased [OR = 2.42,95% CI = )]. There was no significant difference in the frequencies of CC / CT genotypes between the two ethnic groups (P> 0.05). However, the frequency of TT genotypes was significantly different (P <0.05). Conclusion The FGFR2 rs2981579TT genotype increases the risk of breast cancer in Tibetan women in Qinghai. There is no difference in the distribution frequency of CC / CT genotype between Han and Tibetan ethnic groups, but there is a difference in the distribution frequency of TT genotype.