CHEK2单核苷酸多态性与乳腺癌的易感性

Relationship between CHEK2 mutation and the risk of breast cancer

目的研究细胞周期检测点激酶2（CHEK2）基因启动子单核苷酸多态性与女性乳腺癌易感性的相关性。方法采用病例．对照研究方法，运用等位基因扩增-聚合酶链反应（ASA—PCR）方法，结合琼脂糖凝胶电泳技术，分析200例乳腺癌患者（病例组）和200例非乳腺癌患者（对照组）CHEK2基因rs17878974和rsl7883911基因型的分布，并比较不同基因型与乳腺癌易感性的关系。结果CHEK2基因rs17878974基因位点C／C、C／T、T／T基因型频率在病例组与对照组中比较差异未见统计学意义（X2=0．041，P=0．839）；T、C基因频率在病例组与对照组间比较差异未见统计学意义（x。=0．377，P=0．539）。rs17883911基因位点A／A、A／G、G／G基因频率在病例组和对照组间比较差异有统计学意义（x2=21．122，P〈0．001）；G、A基因频率在病例组及对照组间比较差异有统计学意义（x2=13．115，P〈0．001，oR=1．804，95％CI：1．308～2．488）。结论CHEK2基因rsl7878974多态性不能增加女性乳腺癌的易感性，rs17878974多态性可能增加女性乳腺癌的易感性。

Objective To study the relationship between the single nucleotide polymorphism in the promoter of the cell-cycle-checkpoint kinase 2 （CHEK2） gene and the susceptibility of breast cancer in female population. Methods A case-control study was conducted. The distribution of polymorphisms rs17878974 and rs17883911 in CHEK2 gene were＇analyzed using allele specific amplification（ASA） and agarose gel eleetrophoresis in 200 patients With breast cancer and 200 samples of normal controls. Results No significant differealce Was found in the genotypes（ C/C, C/T and T/T） at rs17878974 be- tween the breast cancer group and the control group（x2 =0. 041, P =0. 839） , and there was no signifi- cant difference in the T and C gene frequency between the two groups （ X2 = 0. 377, P = 0. 539）. There was significant difference in the genotypes （A/A, A/G and G/G） at rs17883911 between the breast cancer group and the control group（x2 =21. 122, P 〈0. 001 ）, there was significant difference in the G and A gene frequency between the breast cancer group and the control group （X2 = 13. 115, P 〈0. 001, OR = 1. 804,95% CI： 1. 308-2. 488 ）. Conclusions The single nucleotide polymorphism of CHEK2 gene at rs17878974 position is unlikely to be associated with susceptibility of breast cancer in women. But the single nucleotide polymorphism of CHEK2 gene at rs17878974 position is probably correlated with the in- cidence of breast cancer in women.