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PARP-1基因多态性与乳腺癌风险的相关性

Association between PARP-1 gene polymorphism with breast cancer susceptibility
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摘要 目的:探讨PARP-1基因中的单核苷酸多态性(SNP)与乳腺癌风险的相关性。方法:采用病例对照研究的方法,通过TaqMan Array Card检测技术对甘肃省475例乳腺癌病例和944例健康汉族女性进行PARP-1基因的4个SNPs位点进行分型分析。结果:rs1805408的GA和AA基因型与GG基因型相比,患乳腺癌的风险降低(校正后的优势比OR=0.372,95%CI 0.270-0.512,P<0.001;OR=0.584,95%CI 0.964-0.991,P<0.001)。而与CC基因型相比,rs1805414的CT基因型使患乳腺癌的风险降低(校正后的优势比OR=0.626,95%CI 0.498-0.787,P<0.001)。rs1805408和rs1805414在显性模型中也降低了乳腺癌的风险(AA+GA vs.GG,OR=0.465,95%CI0.347-0.624,P<0.001;TT+CT vs CC,OR=0.662,95%CI 0.543-0.821,P<0.001)。此外,PARP-1的SNPs与p53、Ki67、ER和PR状态之间也存在相关性。与健康对照者相比,携带PARP-1单倍型的病例与乳腺癌发病风险有相关性。结论:PARP-1基因SNP rs1805408突变型和rs1805414 SNP杂合型与乳腺癌的发病风险呈负相关,但rs1805414 GA杂合型与PR阳性乳腺癌发病风险呈正相关。 Objecitve:The aim of the present study was to examine whether single nucleotide polymorphisms(SNP)in the PARP-1 gene are associated with risk of breast cancer in the population of Gansu Province.Method:Four SNPs in the PARP-1 gene in a case-control study were genotyped,including 475 breast cancer cases and 944 healthy controls of Chinese Han woman in Gansu Province,China.Genotypes were determined by using the TaqMan■Array Card assays on the QuantStudioTM 12K Flex Real-Time PCR System.Results:We found that GA and AA genotype of rs1805408 had significant lower risk of breast cancer(adjusted odds ratio OR=0.372,95%CI 0.270-0.512,P<0.001;OR=0.58495%CI 0.964-0.991,P<0.001)compared with GG genotype,and CT genotype of rs1805414 conferred significant reduced risk of breast cancer(adjusted odds ratio OR=0.626,95%CI 0.498-0.787,P<0.001)compared to CC genotype.Rs1805408 and rs1805414 also conferred a decreased risk of breast cancer in dominant models(AA+AG vs.GG,OR=0.465,95%CI 0.347-0.624,P=0.000;TT+CT vs.CC,OR=0.662,95%CI 0.543-0.821,P<0.001).Besides,Significant associations were also shown between the SNPs of PARP-1 and the status of p53,Ki67,ER and PR.Furthermore,it is also showed that cases carrying the PARP-1 haplotypes had significant associations of breast cancer compared with healthy controls.Conclusion:SNP variants in the PARP-1 gene exhibit a positive association with an elevated risk of breast cancer.These findings suggest that variants in PARP-1 gene may influence the risk of breast cancer.
作者 彭静 曾祥挺 刘克丹 朱公建 闵建平 王兰 郭红云 王海涛 王涛 李海宁 魏元基 王军 苏海翔 郭欢 PENG Jing;ZENG Xiangting;LIU Kedan;ZHU Gongjian;MIN Jianping;WANG Lan;GUO Hongyun;WANG Haitao;WANG Tao;LI Haining;WEI Yuanji;WANG Jun;SU Haixiang;GUO Huan(Gansu Provincial Academic Institute For Medical Research/Gansu Provincial Cancer Hospital,Lanzhou 730050,China;The Second Hospital of Lanzhou University,Lanzhou 730000,China)
出处 《甘肃医药》 2025年第7期577-583,共7页 Gansu Medical Journal
基金 甘肃省科技计划项目(编号:18JR3RA064)。
关键词 乳腺癌 SNP rs1805408 rs3219110 rs1805415 rs1805414 单倍型 breast cancer SNP rs1805408 rs3219110 rs1805415 rs1805414 haplotype
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