TNRC9和FGFR2基因多态性与湖北地区汉族人群乳腺癌患病风险研究

目的:研究探讨TNRC9基因rs3803662和FGFR2基因rs17102287单核苷酸多态性(SNP)及两SNP连锁与湖北地区汉族妇女乳腺癌易感性的关系.方法:抽取汉族510例乳腺癌患者和550例健康妇女外周血,分离淋巴细胞,抽提基因组DNA,检测TNRC9 rs3803662和FGFR2 rs17102287 的基因多态性,计算基因型和等位基因频率,研究各基因型以及基因SNP连锁之间对乳腺癌风险的影响.结果:TNRC9基因SNP位点rs3803662的C/C、C/T和T/T基因型频率在病例组和对照组分别为13.0％、46.4％、40.6％和7.3％、52.1％、40.6％,其基因型频率相比差异有统计学意义,x2=9.40,P=0.043.而等位基因频率两组相比差异均无统计学意义；FGFR2基因SNP位点rs17102287的C/C、C/T和T/T基因型频率在病例组和对照组中差异无统计学意义；等位基因频率两组相比差异无统计学意义.两基因连锁分析D'=0.087,r2=0.085,没有明显连锁不平衡现.结论:TNRC9基因rs3803662多态性与汉族妇女乳腺癌易感性有关,FGFR2基因rs17102287多态性及其与TNRC9基因rs3803662单倍体连锁与湖北地区汉族人群妇女乳腺癌易感性无相关性.

Risk of breast cancer in women of Han nationality in Hubei area with the SNP of TNRC9and FGFR2

OBJECTIVE:To investigate the risk of breast cancer in women of Han nationality in Hubei area with predisposing genes,analyze two SNPs(the single nucleotide polymorphisms),including TNRC9rs3803662and FGFR2rs17102287,and evaluate the linkage relationship of two SNPs with breast cancer.METHODS:Genomic DNA was extracted from peripheral blood lymphocytes.Totally 510breast cancer and 550normal controls were recruited.Then calculate the gene and genotype frequencies.This study was to examine the contribution of these two polymorphisms,alone or in combination to the risk of breast cancer.RESULTS:The genotype frequencies of C / C,C / T and T / T of the SNP site rs38033662were 13.0%,46.4%and 40.6%in the cases and 7.3%,52.1% and 40.6%in the controls respectively.Compared to the controls,significant difference was found in the genotype frequencies(χ 2 =9.40,P=0.043),but was not found in the allele frequencies.There was no significant difference between the genotype frequencies of C / C,C / T and T / T of the SNP site rs17102287.Compared to the controls,no significant difference was found in the allele frequencies.The linkage relationship of rs17102287and rs38033662did not increase the risk of breast cancer,with D′of 0.087,and r 2 of 0.085.CONCLUSION:The SNP of TNRC9rs3803662plays an important role in the risk of breast cancer,but FGFR2rs17102287is not associated with breast cancer susceptibility in Han nationality of Hubei area,and the two SNPs have not linkage relationship in the risk of breast cancer.