成纤维细胞生长因子受体2基因rs1219648位点多态性与青海回族女性乳腺癌易感性的关联研究

Single nucleotide polymorphism of FGFR2 gene rs1219648 and susceptibility of breast cancer in female Muslim population of Qinghai province

摘要:

目的  探究成纤维细胞生长因子受体2（FGFR2）基因rs1219648位点单核苷酸多态性（SNP）与青海地区回族女性乳腺癌易感性的关系。方法  采用病例对照研究，利用TaqMan-MGB探针法对青海地区110例回族女性乳腺癌病例和110例正常回族女性对照进行FGFR2基因rs1219648位点基因型检测，利用多元Logistic回归分析该位点不同基因型与乳腺癌易感性之间的关系。结果  FGFR2基因rs1219648位点基因型频率在病例组和对照组之间的差异具有统计学意义（P =0.001）。FGFR2基因rs1219648位点A >G改变可以显著的增加青海地区回族女性人群乳腺癌易感性。其中，在校正初潮年龄、是否绝经、乳腺良性疾病史和乳腺癌家族史因素后，该位点A >G的改变仍可以显著增加该地区回族女性人群乳腺癌患病风险（■AG-GG/AA= 2.37，95%CI：1.18，4.73）。结论  FGFR2基因rs1219648位点A >G改变可显著增加青海地区回族女性乳腺癌的患病风险，预期可以作为该地区女性乳腺癌易感性的重要生物标志物。

Abstract:

Objective To explore the association between single nucleotide polymorphism (SNP) of fibroblast growth factor receptors 2 (FGFR2) gene rs1219648 and susceptibility of breast cancer in female Muslim population of Qinghai province. Methods Using case-control study, the genotypes of FGFR2 gene rs1219648 were detected by denaturing high performance liquid chromatography (dHPLC) among 110 breast cancer cases and 110 healthy controls. Multivariable logistic regression models were performed to estimate the odds ratios and 95% confidence intervals. Results There was a statistically significant difference in genotype frequencies of FGFR2 gene rs1219648 between the cases and the controls (P = 0.001). The mutation from A to G of FGFR2 gene rs1219648 was significantly associated with an increased susceptibility of breast cancer among female Muslim population in Qinghai province; this still existed after additional adjustment for age at first menstruation (> 13 years of age), menopausal status, history of benign breast diseases and family history of breast cancer (■AG-GG/AA = 2.37, 95% CI: 1.18, 4.73). In stratified analyses, this effect was more evident among Muslim population with age of first menstruation older than 13, premenopause, no history of benign breast diseases and no family history of breast cancer. Conclusions These findings suggest that the single nucleotide polymorphism of FGFR2 gene rs1219648 may contribute to the susceptibility ofbreast cancer among female Muslim population in Qinghai province, and it might be also served as a potential biomarker for diagnosis of breast cancer.