ERCC1 Asn118Asn(rs11615)和ERCC2 Lys751Gln(rs13181)基因多态性与胆囊癌的关联性研究
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摘要
目的探讨ERCC1 Asn118Asn(rs11615)和ERCC2 Lys751Gln(rs13181)单核苷酸多态性与胆囊癌的关系。方法选择2014年5月至2016年5月期间重庆市红十字会医院普外科收治的50例胆囊癌病人为胆囊癌组,应用聚合酶链反应检测ERCC1 Asn118Asn(rs11615)和ERCC2 Lys751Gln(rs13181)基因多态性,比较胆囊癌组与健康人群(对照组)ERCC1 Asn118Asn(rs11615)和ERCC2 Lys751Gln(rs13181)基因型的分布频率差异以及等位基因频率差异。结果胆囊癌组和对照组ERCC1 Asn118Asn(rs11615)基因型分布频率野生型CC为54%比66%,杂合型CT为26%比26%,突变型TT为20%比8%,两组比较差异有统计学意义(χ~2=7.05,P=0.028),等位基因频率野生型C为67%比79%,突变型T为33%比21%,两组比较差异有统计学意义(χ~2=5.27,P=0.026)。ERCC2 Lys751Gln(rs13181)基因型分布频率野生型AA为20%比56%,杂合型AB为44%比32%,突变型BB为36%比12%,两组比较差异无统计学意义(χ~2=0.83,P=0.669),等位基因频率野生型A为42%比72%,突变型B为58%比28%,两组比较差异有统计学意义(χ~2=0.75,P=0.448)。结论胆囊癌的发生可能与ERCC1 Asn118Asn(rs11615)和ERCC2 Lys751Gln(rs13181)基因型多态性具有某种关联。
Objective To study the relevance between gene polymorphism of ERCC1 Asn118 Asn(rs11615),ERCC2 Lys751 Gln(rs13181) and gallbladder carcinoma.Methods Fifty gallbladder carcinoma patients who were treated in Department of General Surgery,Chongqing Red Cross Hospital from May 2014 to May 2016 were selected as gallbladder carcinoma group.ERCC1 Asn118 Asn(rs11615) and ERCC2 Lys751 Gln(rs13181) gene polymorphism was detected by means of polymerase chain reaction.The differences of distribution and allele frequency of ERCC1 Asn118 Asn(rs11615) and ERCC2 Lys751 Gln(rs13181) genotype between gallbladder carcinoma group and healthy volunteers in the control group were compared.Results Among 50 cases of gallbladder carcinoma patients and 50 healthy volunteers,ERCC1 Asn118 Asn(rs11615) wild CC genotype frequency was 54%,and 66%,respectively;heterozygous CT was 26%,and 26%,respectively;mutant TT was 20%,and 8%,respectively,and the difference between the two groups was statistically significant(χ~2=7.05,P=0.028).Wild-type C allele frequency was 67%,and 79%,respectively;mutant T was 33%,and 21%,respectively,and the difference between the two groups was statistically significant(χ~2=5.27,P=0.026).ERCC2 Lys751 Gln(rs13181) wild AA genotype frequency was 20%,and 56%,respectively;heterozygous AB was 44%,and 32%,respectively;mutant BB was 36%,and 12%,respectively;there was no significant difference between the two groups(χ~2=0.83,P=0.669).Wild type A allele frequency was 42%,and 72%,respectively;mutant B allele frequency was 58%,and 28%,respectively;and the difference between the two groups was statistically significant(χ~2=0.75,P=0.448).Conclusion The occurrence of gallbladder carcinoma may be related to the genotype polymorphism of ERCC1 Asn118 Asn(rs11615) and ERCC2 Lys751 Gln(rs13181).
Objective To study the relevance between gene polymorphism of ERCC1 Asn118 Asn(rs11615),ERCC2 Lys751 Gln(rs13181) and gallbladder carcinoma.Methods Fifty gallbladder carcinoma patients who were treated in Department of General Surgery,Chongqing Red Cross Hospital from May 2014 to May 2016 were selected as gallbladder carcinoma group.ERCC1 Asn118 Asn(rs11615) and ERCC2 Lys751 Gln(rs13181) gene polymorphism was detected by means of polymerase chain reaction.The differences of distribution and allele frequency of ERCC1 Asn118 Asn(rs11615) and ERCC2 Lys751 Gln(rs13181) genotype between gallbladder carcinoma group and healthy volunteers in the control group were compared.Results Among 50 cases of gallbladder carcinoma patients and 50 healthy volunteers,ERCC1 Asn118 Asn(rs11615) wild CC genotype frequency was 54%,and 66%,respectively;heterozygous CT was 26%,and 26%,respectively;mutant TT was 20%,and 8%,respectively,and the difference between the two groups was statistically significant(χ~2=7.05,P=0.028).Wild-type C allele frequency was 67%,and 79%,respectively;mutant T was 33%,and 21%,respectively,and the difference between the two groups was statistically significant(χ~2=5.27,P=0.026).ERCC2 Lys751 Gln(rs13181) wild AA genotype frequency was 20%,and 56%,respectively;heterozygous AB was 44%,and 32%,respectively;mutant BB was 36%,and 12%,respectively;there was no significant difference between the two groups(χ~2=0.83,P=0.669).Wild type A allele frequency was 42%,and 72%,respectively;mutant B allele frequency was 58%,and 28%,respectively;and the difference between the two groups was statistically significant(χ~2=0.75,P=0.448).Conclusion The occurrence of gallbladder carcinoma may be related to the genotype polymorphism of ERCC1 Asn118 Asn(rs11615) and ERCC2 Lys751 Gln(rs13181).
引文
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[2] SPIVAK G.Nucleotide excision repair in humans[J].DNA Repair (Amst),2015,36:13-18.
[3] LIU Y,WU XH,HU XQ,et al.Multiple repair pathways mediate cellular tolerance to resveratrol-induced DNA damage[J].Toxicology in Vitro,2017,42:130-138.
[4] XU Q,ZHANG ZF,SUN WX,et al.Haplotype analysis on relationship of ERCC2 and ERCC3 gene polymorphisms with osteosarcoma risk in Chinese young population[J].Mamm Genome,2017,28(5/6):227-233.
[5] RYU JS,HONG YC,HAN HS,et al.Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy[J].Lung Cancer,2004,44(3):311-316.
[6] IYODA A.A result of prospective biomarker trial on excision repair cross complementing group 1 (ERCC1) in advanced non-small-cell lung cancer:ERCC1 trial[J].AME Med J,2017:61.
[7] HUANG MY,HUANG JJ,HUANG CM,et al.Relationship between expression of proteins ERCC1,ERCC2,and XRCC1 and clinical outcomes in patients with rectal cancer treated with FOLFOX-based preoperative chemoradiotherapy[J].World J Surg,2017,41(11):2884-2897.
[8] YANG YL,XIAN L.The association between the ERCC1/2 polymorphisms and the clinical outcomes of the platinum-based chemotherapy in non-small cell lung cancer (NSCLC):a systematic review and meta-analysis[J].Tumor Biol,2014,35(4):2905-2921.
[9] AN HJ,JO H,JUNG CK,et al.Prognostic implication of ERCC1 protein expression in resected oropharynx and oral cavity cancer[J].Pathology-Research and Practice,2017,213(8):949-955.