中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
2期
168-171
,共4页
王爱忠%朱忠政%丛文铭%贾杭若%金夏祥%何向蕾%朱冠山
王愛忠%硃忠政%叢文銘%賈杭若%金夏祥%何嚮蕾%硃冠山
왕애충%주충정%총문명%가항약%금하상%하향뢰%주관산
结直肠癌%肝转移%TP53基因%P53表达%单核苷酸多态性%遗传易感性
結直腸癌%肝轉移%TP53基因%P53錶達%單覈苷痠多態性%遺傳易感性
결직장암%간전이%TP53기인%P53표체%단핵감산다태성%유전역감성
colorectal cancer%liver metastases%TP53 gene%P53 expression%single nueleotide polymorphism%genetic suscepfibility
目的 探讨TP53基因C-8343G、C-1863T及第72密码子(R72P)单核苷酸多态性与结直肠癌(colorectal cancer,CRC)肝转移风险的关系.方法 采用TaqMan和聚合酶链反应-限制性片段长度多态性方法,检测121例伴肝转移CRC与性别、年龄匹配的280例不伴肝转移CRC的各单核苷酸多态性的基因型分布及差异.结果 C-8343G和C-1863T基因型分布在伴和不伴肝转移的两组CRC人群间差异均无统计学意义.R72P增加CRC肝转移的发生风险:与PP基因型相比,RP基因型、RR基因型和R等位基因携带者(RP或RR基因型)的肝转移风险分别增加至2.21倍(95%CI:1.13~4.33)、2.26倍(95%CI:1.03~4.94)和2.22倍(95%CI:1.16~4.26).CRC组织中P53表达状态的分层分析结果显示:对于P53表达阳性者,72R携带者的肝转移风险与PP基因型相比进一步增加至3.28倍(95%CI:1.21~8.88);而对于P53表达阴性者,PP基因型与72R携带者的肝转移风险差异无统计学意义(比值比为1.37,95%CI:0.52~3.62).结论 TP53增加CRC,特别是P53表达阳性CRC的肝转移风险,可作为CRC肝转移高危人群的筛选指标;C-8343G和C-1863T可能均与CRC肝转移风险无关.
目的 探討TP53基因C-8343G、C-1863T及第72密碼子(R72P)單覈苷痠多態性與結直腸癌(colorectal cancer,CRC)肝轉移風險的關繫.方法 採用TaqMan和聚閤酶鏈反應-限製性片段長度多態性方法,檢測121例伴肝轉移CRC與性彆、年齡匹配的280例不伴肝轉移CRC的各單覈苷痠多態性的基因型分佈及差異.結果 C-8343G和C-1863T基因型分佈在伴和不伴肝轉移的兩組CRC人群間差異均無統計學意義.R72P增加CRC肝轉移的髮生風險:與PP基因型相比,RP基因型、RR基因型和R等位基因攜帶者(RP或RR基因型)的肝轉移風險分彆增加至2.21倍(95%CI:1.13~4.33)、2.26倍(95%CI:1.03~4.94)和2.22倍(95%CI:1.16~4.26).CRC組織中P53錶達狀態的分層分析結果顯示:對于P53錶達暘性者,72R攜帶者的肝轉移風險與PP基因型相比進一步增加至3.28倍(95%CI:1.21~8.88);而對于P53錶達陰性者,PP基因型與72R攜帶者的肝轉移風險差異無統計學意義(比值比為1.37,95%CI:0.52~3.62).結論 TP53增加CRC,特彆是P53錶達暘性CRC的肝轉移風險,可作為CRC肝轉移高危人群的篩選指標;C-8343G和C-1863T可能均與CRC肝轉移風險無關.
목적 탐토TP53기인C-8343G、C-1863T급제72밀마자(R72P)단핵감산다태성여결직장암(colorectal cancer,CRC)간전이풍험적관계.방법 채용TaqMan화취합매련반응-한제성편단장도다태성방법,검측121례반간전이CRC여성별、년령필배적280례불반간전이CRC적각단핵감산다태성적기인형분포급차이.결과 C-8343G화C-1863T기인형분포재반화불반간전이적량조CRC인군간차이균무통계학의의.R72P증가CRC간전이적발생풍험:여PP기인형상비,RP기인형、RR기인형화R등위기인휴대자(RP혹RR기인형)적간전이풍험분별증가지2.21배(95%CI:1.13~4.33)、2.26배(95%CI:1.03~4.94)화2.22배(95%CI:1.16~4.26).CRC조직중P53표체상태적분층분석결과현시:대우P53표체양성자,72R휴대자적간전이풍험여PP기인형상비진일보증가지3.28배(95%CI:1.21~8.88);이대우P53표체음성자,PP기인형여72R휴대자적간전이풍험차이무통계학의의(비치비위1.37,95%CI:0.52~3.62).결론 TP53증가CRC,특별시P53표체양성CRC적간전이풍험,가작위CRC간전이고위인군적사선지표;C-8343G화C-1863T가능균여CRC간전이풍험무관.
Objective To investigate the possible association between the single nucleotide polymorphisms (SNPs)(C-8343G,C-1863T and R72P)in TP53 gene and susceptibility to liver metastases of coloreetal cancer(CRC)in a Chinese popuation.Methods The genotypes of each SNP in TP53 gene were determined by either TaqMan assays or PCR-based restriction fragment length polymorphism(RFLP)method in 121 colorectal cancer patients with liver metastases and sex-,age-matched 280 cases with nonmetastatic CRC as a control.Immunohistochemical stainirig for P=53 was performed on paraffin-embedded sections.Odds ratios(ORs)for colorectal liver metastases and 95%coatidence intervals(CIs)from unconditional logistic regression models were used to evaluate relative risks.Results No significant association of C-8343G or C-1863T with colorectal liver metastases risk was observed.However,the R allele of the TP53 R72P polymorphism was more frequenfly found in metastatic cases than in nonmetastatic cases(P=0.037).When compared with PP homozygotes,the ORs of metastases for RP heterozygotes was 2.21(95%CI:1.13-4.33),for RR homozygotes was 2.26(95%CI:1.03-4.94),and for carriers of the 72R allele(RP or RR genotype)was 2.22(95%CI:1.16-4.26).Stratified analysis indicated that carrying the 72R allele had a more pronounced inerease in colorectal liver metastases risk among patients with positive P53 expression tumors(OR=3.28,95%CI:1.21-8.88),whereas no significantly increased metastases risk was found in patienm with negative P53 expression tumors(OR=1.37,95%CI:0.52-3.62).Conclusion The R allele of the TP53 R72P polymorphism may contribute to the etiology of liver metastases in CRC patients,particularly among those with positive P53 expression tumors.BothTP53 C-8343G and C-1863T may be not associated with colorectal liver metastases risk.