青海地区藏族 FGFR2基因多态性与乳腺癌的相关性研究

目的：探讨成纤维细胞生长因子受体2（FG FR2）基因rs2981582、rs1219648和 rs2420946位点基因多态性与青海地区藏族乳腺癌的相关性。方法采用病例对照研究的方法，收集青海地区210例藏族乳腺癌患者及230例藏族体检健康女性的外周血标本，提取基因组DNA ，以Taqman‐MGB探针PCR法及测序方法对两组标本的FGFR2基因 rs2981582、rs1219648和rs2420946位点进行统计分型，分析其与青海地区藏族乳腺癌发病风险的关系。结果藏族乳腺癌患者rs 2981582位点CC、CT、T T频率分别为40．48％、39．05％、20．47％，健康对照组为36．09％、48．69％、15．22％，藏族乳腺癌患者rs1219648位点GG、AG、AA频率分别为24．76％、26．19％、49．05％，健康对照组为23．91％、47．39％、28．70％，藏族乳腺癌患者rs2420946位点CC、CT、T T频率分别为29．05％、45．24％、25．71％，健康对照组为30．87％、51．74％、17．39％。两组rs2981582和 rs2420946各基因型位点基因型频率差异均无统计学意义（P＞0．05），但存在于 rs1219648位点的AA基因型其频率差异有统计学意义（P＜0．05），与GG基因型比较，AA基因型携带的女性发生乳腺癌的危险性增加[OR＝1．65，95％ CI＝（1．01，2．69）]。结论 FGFR2 rs1219648 AA基因型与青海地区藏族女性乳腺癌发病风险有关。

The correlation study between FGFR2 gene polymorphisms and breast cancer in Qinghai Tibetan areas

Objective To explore the relationship between the fibroblast growth factor 2 (FGFR2) gene polymorphism (rs 2981582 ,rs 1219648 ,rs 2420946) and the breast cancer risk in Tibetan population ,Qinghai province .Methods This is a case con‐trol study .Peripheral blood samples from 210 breast cancer patients and 230 healthy women in Qinghai area were collected .DNA samples were extracted from peripheral blood cells .FGFR2 gene polymorphism (rs 2981582 ,rs 1219648 ,rs 2420946) were typed by Taqman‐MGB probe based on PCR and DNA sequencing ,then analyzed its correlation with breast cancer in Tibetan population , Qinghai province .Results The genotype frequencies of rs 2981582 CC ,CT and TT were 40 .48% ,39 .05% and 20 .47% among the breast cancer patients while 36 .09% ,48 .69% and 15 .22% among the controls .The genotype frequencies of rs 1219648 GG ,AG and AA were 24 .76% ,26 .19 % and 49 .05% among the patients while 23 .91% ,47 .39% and 28 .70% among the controls .The genotype frequencies of rs 2420946 CC ,CT and TT were 29 .05% ,45 .24% and 25 .71% among the patients while 30 .87% , 51 .74% and 17 .39% among the controls .The genotype frequencies of all genetic loci had no significant difference between rs 2981582 and rs 2420946 (P>0 .05) .But the genotype frequencies of rs 1219648 AA have statistical sense (P< 0 .05) ,compared with GG ,the incidence of breast cancer was remarkably increased with AA [OR=1 .65 ,95% CI= (1 .01 ,2 .69)] .Conclusion This study shows that FGFR2 rs1219648 AA is related to breast cancer risk among Tibetan population .