CAJ | 학술논문

目的：探索KLK3基因变异与中国北方男性前列腺癌（ PCa）的患病风险的关联。方法采用病例－对照研究，选择前列腺癌患者266例为病例组，PSA＞20ng／ml，患者均已经组织病理学检查确诊。对照组288例，来自常规体检人群。PSA＜4．0ng／ml，均无前列腺癌家族史。收集患者临床表型及遗传背景等信息，用聚合酶链式反应—高分辨率熔解曲线（HRM）结合DNA测序技术，检测两组6个具有前列腺癌风险的单核苷酸多态性位点（SNP） rs13385191，rs12653946， rs1983891，rs339331，rs9600079和rs2735839的基因型及等位基因频率的分布情况，探讨各基因与患者的肿瘤分期、Gleason评分、危险度分级等临床特征之间的关系。结果病例组和对照组间RFX6（rs339331）可降低我国北方男性前列腺癌患病风险（OR＝0．73，95％CI＝0．57～0．94，P＝0．013）。两组中，受试者的CX（CC＋TC）基因型与TT基因型相比，有降低前列腺癌的风险（OR＝0．64，95％CI＝0．45～0．90，P＝0．008）。基因型－临床表型观察指标关联分析显示，13q22（rs9600079， T）与肿瘤分期有关（OR＝2．34，95％CI＝0．94～5．87，P＝0．044）。其他的基因型及等位基因频率的分布差异均无统计学意义（ P＞0．05）。结论 RFX6（ rs339331）位点与前列腺癌的发生具有相关性。
목적：탐색KLK3기인변이여중국북방남성전렬선암（ PCa）적환병풍험적관련。방법채용병례－대조연구，선택전렬선암환자266례위병례조，PSA＞20ng／ml，환자균이경조직병이학검사학진。대조조288례，래자상규체검인군。PSA＜4．0ng／ml，균무전렬선암가족사。수집환자림상표형급유전배경등신식，용취합매련식반응—고분변솔용해곡선（HRM）결합DNA측서기술，검측량조6개구유전렬선암풍험적단핵감산다태성위점（SNP） rs13385191，rs12653946， rs1983891，rs339331，rs9600079화rs2735839적기인형급등위기인빈솔적분포정황，탐토각기인여환자적종류분기、Gleason평분、위험도분급등림상특정지간적관계。결과병례조화대조조간RFX6（rs339331）가강저아국북방남성전렬선암환병풍험（OR＝0．73，95％CI＝0．57～0．94，P＝0．013）。량조중，수시자적CX（CC＋TC）기인형여TT기인형상비，유강저전렬선암적풍험（OR＝0．64，95％CI＝0．45～0．90，P＝0．008）。기인형－림상표형관찰지표관련분석현시，13q22（rs9600079， T）여종류분기유관（OR＝2．34，95％CI＝0．94～5．87，P＝0．044）。기타적기인형급등위기인빈솔적분포차이균무통계학의의（ P＞0．05）。결론 RFX6（ rs339331）위점여전렬선암적발생구유상관성。
Objectives To investigate the association between the KLK3 gene and prostate cancer(PCa) in northern Chinese men,and to understand the relationship in PCa patients in the genes type and age at diagnosis, prostate specific antigen, Gleason score, tumor stage and aggressive clinical.Methods A case-control method was performed,including 266 patients with prostate cancer and 288 normal individuals as controls.All subjects were from Beijing and Tianjin.We assessed associations between clinical covariates ( age at diagnosis, prostate specific antigen, Gleason score, tumor stage and aggressive) and 6 candidate PCa risk loci, genotyped by PCR-HRM resolution melting curve and sequencing methods.Results Analysis of allelic frequency of PCa was linked to PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was linked to reduced risk of prostate cancer ( P=0.013,odds ratio (OR)=0.73, 95%confidence interval (CI)=0.57~0.94).Moreover, The TT genotype of 13q22 (rs9600079, T) was associated with tumor stage (P=0.044, OR=2.34, 95% CI=0.94~5.87).Those subjects with CX (CC+TC) geno-types had a decreased risk for prostrate cancer compared to those carrying the TT homozygote (OR=0.64, 95%CI=0.45~0.90, P=0.008).There was no obverse distribution of difference in other SNPs (P>0.05) were not significantly associated with clinical covariates in prostate cancer ( P>0.05) .Conclusions rs339331 in the RFX6 gene perhaps associated with prostate cancer as a susceptibility locus in the northern Chinese men.