Pan Z, Bao Y, Zheng X, Cao W, Cheng W, Xu X
Tsitol Genet. 2016 Sep-Oct;50(5):59-64.
Recent genome-wide association studies (GWAS) demonstrated that genetic variation in intron 2 of fibroblast growth factor receptor 2 (FGFR2) was a novel risk for breast cancer. We investigated whether two SNPs rs1219648 and rs2981582 in intron 2 of FGFR2 were associated with the risk of breast cancer in Chinese women. A total of 340 female breast cancer patients and 400 normal age-matched controls were recruited. Two SNPs were genotyped using matrix-assisted laser desorption/ionization mass spectrometry. The two SNPs rs1219648 and rs2981582 showed no association with the risk of breast cancer. A subgroup analysis by menopausal status demonstrated that the distribution of rs2981582 T alleles, including CT and TT genotypes, was significantly higher in premenopausal patients compared with postmenopausal patients. The TT genotype in rs2981582 was more strongly associated with ER-positive than with ER-negative tumors by ER status analysis. Analysis by haplotypes showed that no haplotypes associated with breast cancer. The results showed no association between two SNPs, rs1219648 and rs2981582 and breast cancer risk, although in a stratified analysis rs2981582 strongly associated with premenopausal and ER-positive breast cancer patients in Chinese women.
近期的全基因组关联研究（GWAS）表明，成纤维细胞生长因子受体2（FGFR2）内含子2中的基因变异是乳腺癌的一种新风险因素。我们调查了FGFR2内含子2中的两个单核苷酸多态性（SNP）rs1219648和rs2981582是否与中国女性患乳腺癌的风险相关。共招募了340名女性乳腺癌患者和400名年龄匹配的正常对照。使用基质辅助激光解吸/电离质谱法对两个SNP进行基因分型。这两个SNP rs1219648和rs2981582与乳腺癌风险无关联。按绝经状态进行的亚组分析表明，与绝经后患者相比，绝经前患者中rs2981582的T等位基因（包括CT和TT基因型）的分布显著更高。通过雌激素受体（ER）状态分析，rs2981582的TT基因型与ER阳性肿瘤的相关性比与ER阴性肿瘤的更强。单倍型分析显示没有与乳腺癌相关的单倍型。结果表明，两个SNP rs1219648和rs2981582与乳腺癌风险之间无关联，尽管在分层分析中rs2981582与中国绝经前和ER阳性乳腺癌患者密切相关。
