CAJ | 학술논문

目的胆管癌(cholangiocarcinoma, CC)病因远未阐明,早期诊断困难.DNA修复酶8-羟基鸟嘌呤糖苷酶(human 8-hydroxyguanine glycosylase, hOGG1) Ser326Cys(rslo52133)多态性与许多肿瘤的发病相关,但是与CC的关系却未见报道.旨在探讨hOGG1基因Ser326Cys位点的多态性在CC发病中的作用. 方法用聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)方法检测了59例CC和100例正常对照的hOGG1基因Ser326Cys位点的基因分型,并比较不同基因型与CC发病危险的关系. 结果 hOGG1基因rs1052133多态性位点的Ser/Ser、Ser/Cys和Cys/Cys基因型在CC中的频率分别为15.3%、59.3%和25.4%,在对照组中分别为13.0%、44.0%和43.0%;以Ser/Ser基因型作为参照,Ser/Cys、Cys/Cys和Ser/Cys+Cys/Cys基因型均不增加CC的发病风险;对于女患者,以Ser/Ser基因型作为参照,Ser/Cys和Ser/Cys+Cys/Cys基因型与其相比,虽未达到统计学差异,但有增加CC发病风险的趋势[优势比(odds ratio, OR)值分别为3.81和2.917,95%可信区间(confidence interval, CI)分别为0.404~35.905和0.319～26.68]. 结论 hOGG1基因Ser326Cys位点的多态性可能与CC的遗传易感性无关.
목적 담관암(cholangiocarcinoma, CC)병인원미천명,조기진단곤난.DNA수복매8-간기조표령당감매(human 8-hydroxyguanine glycosylase, hOGG1) Ser326Cys(rslo52133)다태성여허다종류적발병상관,단시여CC적관계각미견보도.지재탐토hOGG1기인Ser326Cys위점적다태성재CC발병중적작용. 방법 용취합매련식반응-한제성편단장도다태성(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)방법 검측료59례CC화100례정상대조적hOGG1기인Ser326Cys위점적기인분형,병비교불동기인형여CC발병위험적관계. 결과 hOGG1기인rs1052133다태성위점적Ser/Ser、Ser/Cys화Cys/Cys기인형재CC중적빈솔분별위15.3%、59.3%화25.4%,재대조조중분별위13.0%、44.0%화43.0%;이Ser/Ser기인형작위삼조,Ser/Cys、Cys/Cys화Ser/Cys+Cys/Cys기인형균불증가CC적발병풍험;대우녀환자,이Ser/Ser기인형작위삼조,Ser/Cys화Ser/Cys+Cys/Cys기인형여기상비,수미체도통계학차이,단유증가CC발병풍험적추세[우세비(odds ratio, OR)치분별위3.81화2.917,95%가신구간(confidence interval, CI)분별위0.404~35.905화0.319～26.68]. 결론 hOGG1기인Ser326Cys위점적다태성가능여CC적유전역감성무관.