CAJ | 학술논문

目的探讨X线修复交叉互补基因1 (XRCCl)的单核苷酸多态性(SNP)及其单体型与胰腺癌发病风险的关系.方法提取210例胰腺癌患者和213例同期住院的非肿瘤患者外周血DNA,应用SNaPshot技术对XRCCl基因的7个SNP位点(rs3213403、rs25487、rs1799782、rs731420、rs1001581、rs12611088和rs3213282)进行基因分型,采用Logistic回归模型分析不同基因型或单体型与胰腺癌发病风险的相关性.结果 rs25487位点A等位基因在病例组中的分布频率高于对照组(P＜0.05),GG、GA、AA基因型在病例组和对照组中的分布频率差异有统计学意义(P＜0.05)；与GG基因型比较,携带至少1个突变等位基因A(GA+ AA)的个体发生胰腺癌的风险增加了0.648倍(P＜0.05),其中携带A等位基因的个体较携带G等位基因的个体发生胰腺癌的风险增加了0.552倍.rs1799782位点的基因型和等位基因在病例组和对照组中的分布频率差异亦有统计学意义(P＜0.05)；与CC基因型比较,携带至少1个突变等位基因T(CT+TT)的个体发生胰腺癌的风险增加了0.683倍,其中携带T等位基因的个体较携带C等位基因的个体发生胰腺癌的风险增加了0.549倍.7个SNP位点任意两位点间均存在有统计学意义的连锁不平衡关系(均P＜0.05).单体型分析的结果表明,H4-AGCCCGC、H6-GGCCCGG和H7-AGCCTAG单体型在病例组中出现的频率明显低于对照组(P＜0.05).结论 XRCCl基因rs25487和rs1799782位点的SNP可能与胰腺癌的发病相关,其中H4-AGCCCGC、H6-GGCCCGG和H7-AGCCTAG单体型可能是胰腺癌的遗传保护因素.
목적 탐토X선수복교차호보기인1 (XRCCl)적단핵감산다태성(SNP)급기단체형여이선암발병풍험적관계.방법 제취210례이선암환자화213례동기주원적비종류환자외주혈DNA,응용SNaPshot기술대XRCCl기인적7개SNP위점(rs3213403、rs25487、rs1799782、rs731420、rs1001581、rs12611088화rs3213282)진행기인분형,채용Logistic회귀모형분석불동기인형혹단체형여이선암발병풍험적상관성.결과 rs25487위점A등위기인재병례조중적분포빈솔고우대조조(P＜0.05),GG、GA、AA기인형재병례조화대조조중적분포빈솔차이유통계학의의(P＜0.05)；여GG기인형비교,휴대지소1개돌변등위기인A(GA+ AA)적개체발생이선암적풍험증가료0.648배(P＜0.05),기중휴대A등위기인적개체교휴대G등위기인적개체발생이선암적풍험증가료0.552배.rs1799782위점적기인형화등위기인재병례조화대조조중적분포빈솔차이역유통계학의의(P＜0.05)；여CC기인형비교,휴대지소1개돌변등위기인T(CT+TT)적개체발생이선암적풍험증가료0.683배,기중휴대T등위기인적개체교휴대C등위기인적개체발생이선암적풍험증가료0.549배.7개SNP위점임의량위점간균존재유통계학의의적련쇄불평형관계(균P＜0.05).단체형분석적결과표명,H4-AGCCCGC、H6-GGCCCGG화H7-AGCCTAG단체형재병례조중출현적빈솔명현저우대조조(P＜0.05).결론 XRCCl기인rs25487화rs1799782위점적SNP가능여이선암적발병상관,기중H4-AGCCCGC、H6-GGCCCGG화H7-AGCCTAG단체형가능시이선암적유전보호인소.
Objective The aim of this study was to evaluate the effects of XRCCl gene polymorphisms and its haplotype on the susceptibility of pancreatic carcinoma.Methods Peripheral blood DNA was extracted from 210 pancreatic carcinoma patients and 213 control subjects.SNaPshot technique was used for genotyping seven SNP sites of the XRCCl gene (rs3213403,rs25487,rs1799782,rs731420,rs1001581,rs12611088,and rs3213282).Logistic regression model was performed to analyze the relationship of different genotypes or haplotype and the susceptibility of pancreatic carcinoma.Results The frequency for allele A at site rs25487 in the case group was significantly higher than that in the control group (P ＜ 0.05).The frequency of GG,GA and AA genotype between the case group and control group had statistically significant differences (P ＜ 0.05).Compared with GG genotype,the risk of pancreatic carcinoma in the subjects carrying mutated allele A (GA + AA) was increased by 0.648 times (P ＜ 0.05).Among them the pancreatic carcinoma risk of individuals carrying A allele was increased by 0.552 times compared with the individuals carrying G allele.The frequency of allele and genotype at site rs1799782 in the case group and control group had a significant difference (P ＜ 0.05).Compared with the CC genotype,the risk of pancreatic carcinoma in the subjects carrying mutated allele T (CT + TT) was increased by 0.683 times.Among them the pancreatic carcinoma risk of individuals carrying T allele was increased by 0.549 times compared with the individuals carrying C allele.Significant differences were observed in linkage disequilibrium between any two of the seven SNPs (P ＜ 0.05),the frequency of H4-AGCCCGC,H6-GGCCCGG or H7-AGCCTAG haplotypes was significantly lower in the case group than that in the control group (P ＜ 0.05).Conclusions The single nucleotide polymorphisms of rs25487 and rs1799782 for XRCC1 gene may be correlated with the occurrence of pancreatic carcinoma.The haplotypes of H4-AGCCCGC,H6-GGCCCGG and H7-AGCCTAG might be a potential genetic protective factor for the occurrence of pancreatic carcinoma.