中华预防医学杂志
中華預防醫學雜誌
중화예방의학잡지
CHINESE JOURNAL OF
2009年
7期
586-590
,共5页
徐亚菲%潘清华%崔璀%陈丽珍%冯启胜%曾益新%贾卫华
徐亞菲%潘清華%崔璀%陳麗珍%馮啟勝%曾益新%賈衛華
서아비%반청화%최최%진려진%풍계성%증익신%가위화
鼻咽肿瘤%细胞色素P450 CYP1A1%多态性,单核苷酸%统计学
鼻嚥腫瘤%細胞色素P450 CYP1A1%多態性,單覈苷痠%統計學
비인종류%세포색소P450 CYP1A1%다태성,단핵감산%통계학
Nasopharyngeal neoplasms%Cytochrome P-450 CYPIAI%Polymorphism,single nucleotide%Statistics
目的 利用以核心家系为基础的关联研究探讨细胞色素P450酶系(cytochrome P450,CYP450)CYP1A1基因m1和m2多态性并分析其与鼻咽癌易感性的关联.方法 收集457个广东鼻咽癌核心家系(每个核心家系由患者和父母或同胞构成)共2134名成员作为研究对象,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对CYPlAl基因单核苷酸多态性(SNP)位点m1和m2(其参考编号分别为rs4646903和rs1048943)进行基因分型.挑选PCR产物测序验证.运用家系为基础的相关性检验(family-based association test,FBAT)软件分析这两个多态位点的基因型及其单体型与鼻咽癌易感性的关联.结果 FBAT软件分析结果 显示,位点m1和m2的微效等位基因频率(MAF)分别为0.442(C)和0.339(G).其中无论是否根据EB病毒壳抗原抗体(VCA-IgA)分层,m1位点与鼻咽癌的易感性之间关联均无统计学意义[未分层:X2=2.399,P=0.301;分层后:低滴度组(VCA-IgA<1:80),MAF=0.457(C),X2=1.221,P=0.543;高滴度组(VCA-IgA≥1:80),MAF=0.427(C),X2=2.832,P=0.243];对m2位点来说,末根据VCA-IgA分层时,该位点与鼻咽癌的易感性之间关联无统计学意义(X2=2.694,P=0.260).分层后,在低滴度组,累加和显性模式下,位点m2等位基因G显示了从亲代到子代传递减少[MAF=0.347(G);Z<,累加>=-2.120,P<,累加>=0.034;Z显性=-2.303,P显性=0.021],全局统计也提示了传递的改变(X2=5.394,P=0.067);由这两个位点构建的单体型TG(0.057)可能降低鼻咽癌的发病风险(Z=-2.002,P=0.045),全局统计也提示CYP1A1基因单体型可能与鼻咽癌易感性有关系(X2=7.067,P=0.070).结论 以家系为基础的相关性研究发现CYP1A1基因多态位点m1与鼻咽癌的易感性之间关联无统计学意义,位点m2基因多态性可能与鼻咽癌的发病风险降低有关系.
目的 利用以覈心傢繫為基礎的關聯研究探討細胞色素P450酶繫(cytochrome P450,CYP450)CYP1A1基因m1和m2多態性併分析其與鼻嚥癌易感性的關聯.方法 收集457箇廣東鼻嚥癌覈心傢繫(每箇覈心傢繫由患者和父母或同胞構成)共2134名成員作為研究對象,採用聚閤酶鏈反應-限製性片段長度多態性(PCR-RFLP)方法對CYPlAl基因單覈苷痠多態性(SNP)位點m1和m2(其參攷編號分彆為rs4646903和rs1048943)進行基因分型.挑選PCR產物測序驗證.運用傢繫為基礎的相關性檢驗(family-based association test,FBAT)軟件分析這兩箇多態位點的基因型及其單體型與鼻嚥癌易感性的關聯.結果 FBAT軟件分析結果 顯示,位點m1和m2的微效等位基因頻率(MAF)分彆為0.442(C)和0.339(G).其中無論是否根據EB病毒殼抗原抗體(VCA-IgA)分層,m1位點與鼻嚥癌的易感性之間關聯均無統計學意義[未分層:X2=2.399,P=0.301;分層後:低滴度組(VCA-IgA<1:80),MAF=0.457(C),X2=1.221,P=0.543;高滴度組(VCA-IgA≥1:80),MAF=0.427(C),X2=2.832,P=0.243];對m2位點來說,末根據VCA-IgA分層時,該位點與鼻嚥癌的易感性之間關聯無統計學意義(X2=2.694,P=0.260).分層後,在低滴度組,纍加和顯性模式下,位點m2等位基因G顯示瞭從親代到子代傳遞減少[MAF=0.347(G);Z<,纍加>=-2.120,P<,纍加>=0.034;Z顯性=-2.303,P顯性=0.021],全跼統計也提示瞭傳遞的改變(X2=5.394,P=0.067);由這兩箇位點構建的單體型TG(0.057)可能降低鼻嚥癌的髮病風險(Z=-2.002,P=0.045),全跼統計也提示CYP1A1基因單體型可能與鼻嚥癌易感性有關繫(X2=7.067,P=0.070).結論 以傢繫為基礎的相關性研究髮現CYP1A1基因多態位點m1與鼻嚥癌的易感性之間關聯無統計學意義,位點m2基因多態性可能與鼻嚥癌的髮病風險降低有關繫.
목적 이용이핵심가계위기출적관련연구탐토세포색소P450매계(cytochrome P450,CYP450)CYP1A1기인m1화m2다태성병분석기여비인암역감성적관련.방법 수집457개엄동비인암핵심가계(매개핵심가계유환자화부모혹동포구성)공2134명성원작위연구대상,채용취합매련반응-한제성편단장도다태성(PCR-RFLP)방법대CYPlAl기인단핵감산다태성(SNP)위점m1화m2(기삼고편호분별위rs4646903화rs1048943)진행기인분형.도선PCR산물측서험증.운용가계위기출적상관성검험(family-based association test,FBAT)연건분석저량개다태위점적기인형급기단체형여비인암역감성적관련.결과 FBAT연건분석결과 현시,위점m1화m2적미효등위기인빈솔(MAF)분별위0.442(C)화0.339(G).기중무론시부근거EB병독각항원항체(VCA-IgA)분층,m1위점여비인암적역감성지간관련균무통계학의의[미분층:X2=2.399,P=0.301;분층후:저적도조(VCA-IgA<1:80),MAF=0.457(C),X2=1.221,P=0.543;고적도조(VCA-IgA≥1:80),MAF=0.427(C),X2=2.832,P=0.243];대m2위점래설,말근거VCA-IgA분층시,해위점여비인암적역감성지간관련무통계학의의(X2=2.694,P=0.260).분층후,재저적도조,루가화현성모식하,위점m2등위기인G현시료종친대도자대전체감소[MAF=0.347(G);Z<,루가>=-2.120,P<,루가>=0.034;Z현성=-2.303,P현성=0.021],전국통계야제시료전체적개변(X2=5.394,P=0.067);유저량개위점구건적단체형TG(0.057)가능강저비인암적발병풍험(Z=-2.002,P=0.045),전국통계야제시CYP1A1기인단체형가능여비인암역감성유관계(X2=7.067,P=0.070).결론 이가계위기출적상관성연구발현CYP1A1기인다태위점m1여비인암적역감성지간관련무통계학의의,위점m2기인다태성가능여비인암적발병풍험강저유관계.
Objective To investigate the association between CYP1A1 gene polymorphisms and susceptibility of nasopharyngeal carcinoma in Cantonese nuclear families through family-based association study. Methods A total of 457 Cantonese nuclear families, consisting of 2134 members, were recruited as subjects. Each family included two parents and at least one offspring with nasopharyngeal carcinoma. Two single nucleotide polymorphisms (SNP) in CYP1A1 named m1 (rs4646903) and m2 (rs1048943) , were genotyped by PCR-RFLP assay and verified by directly sequencing. The genotype data were analyzed with family-based association test (FBAT) software to check the linkage and association between the two genetic markers and susceptibility of nasopharyngeal carcinoma. Results FBAT analysis showed that the minor allele frequencies (MAF) of the two SN P were 0. 442 (C) and 0. 339 (G) respectively. For m1 polymorphism in CYP1A1 gene was not significantly associated with nasopharyngeal carcinoma in our study population whether stratified with VCA-IgA or not (without stratification : X2=2. 399, P=0. 301 ; with stratification : Iow-titer group (VCA-IgA<1 : 80), MAF=0. 457 (C), X2=1.221, P=0.543 ; high-titer group (VCA-IgA ≥1 : 80), MAF=0. 427 (C), X2=2. 832, P=0. 243). For m2 polymorphism, when VCA-IgA<1 : 80, the G allele showed decreased transmission under additive and dominant model (MAF=0. 347 (G) ; Zadditive=-2. 120,Padditive=0. 034;Zdominant=-2. 303,Pdominant=0.021)and a boundary P value was got with global statistic (X2=5. 394, P=0. 067). Haplotype TG (0. 057), constructed by ml and m2, might decrease nasophargneal carcinoma risk (Z=-2. 002,P=0. 045). A boundary P value was also got with global statistic (X2=7. 067 ,P=0. 070). Conclusion There was no statistical significance between ml polymorphism and susceptibility of nasopharyngeal carcinoma in Cantonese nuclear families. And this study showed that m2 polymorphism might associated with the decrease of nasopharyngeal carcinoma in Cantonese nuclear families.
