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长链非编码RNA H19单核苷酸多态性与前列腺癌易感性的关系分析

陈剑晖1,李晓帆2,翁明高1,蔡伟忠1   

  1. 1 福建医科大学附属协和医院泌尿外科 2 福建省血液病研究所
  • 收稿日期:2017-07-18 修回日期:2017-09-22 出版日期:2017-11-30 发布日期:2018-06-06
  • 通讯作者: 蔡伟忠

Analysis of the association of H19 gene polymorphisms with susceptibility to prostate cancer

CHEN Jianhui, LI Xiaofan, WENG Minggao, CAI Weizhong.   

  1. Department of Urology, the Affiliated Hospital of Fujian Medical University
  • Received:2017-07-18 Revised:2017-09-22 Online:2017-11-30 Published:2018-06-06
  • Contact: CAI Weizhong

摘要: 目的 探讨长链非编码RNA H19单核苷酸多态性(SNPs)与前列腺癌易感性的关系。
方法收集本院2013年1月至2016年9月经病理确诊的145例前列腺癌患者和162健康体检者的外周静脉血,根据最小等位基因频率(MAF)>0.05和连锁不平衡参数r2>0.8的原则筛选H19的4个TagSNPs(rs2839698、rs3024270、rs217727和rs2735971)并采用TaqMan MGB等位基因分型试剂盒进行基因分型,分析两组以上TagSNPs的基因型和等位基因分布差异及HardyWeinberg平衡情况,以比值比(OR)及其95%置信区间(95%CI)评估前列腺癌的相对风险。结果 145例前列腺癌患者和162例健康体检者H19的4个TagSNPs均处于Hardy-Weinberg平衡状态。前列腺癌组与对照组rs3024270、rs217727基因型及等位基因分布的差异无统计学意义(P>0.05);rs2839698分布上,前列腺癌组AA基因型及等位基因A的分布频率分别为28.3%(41/145)和47.6%(138/290),高于对照组的14.2%(23/162)和36.1%(117/324),差异有统计学意义(P<0.05);rs2735971分布上,前列腺癌组CC基因型及等位基因C的分布频率分别为35.2%(51/145)和54.1%(157/290),均高于对照组的19.7%(32/162)和38.6%(125/324),差异有统计学意义(P<0.05)。rs3024270、rs217727与前列腺癌易感性无关。与rs2839698 GG基因型相比,AA基因型的前列腺癌发生风险升高至2.525倍,而等位基因A较G升高至1.606倍;与rs2735971 TT基因型相比,CC及TC+CC基因型的前列腺癌发生风险升高分别至2.820和2.017倍(P<0.05);等位基因C较T升高至1.879倍(P<0.05)。 结论 H19 rs2839698、rs2735971与前列腺癌易感性有关,其中携带突变等位基因的人群前列腺癌发生风险升高,作为前列腺癌易感人群的筛查有一定价值。

Abstract: Objective To investigate the association between single nucleotide polymorphisms (SNPs) of long noncoding RNA H19 and susceptibility to prostate cancer. Methods Peripheral venous blood samples were collected from 145 patients with prostate cancer following pathological diagnosis and 162 healthy controls from January 2013 to September 2016 in our hospital. According to the principle of minimum allele frequency>0.05 and linkage disequilibrium parameter r2>0.8, four TagSNPs (rs2839698, rs3024270, rs217727 and rs2735971) of H19 were screened. Genotyping was carried out by using TaqMan MGB allele typing kit. The genotype and allele distribution differences and HardyWeinberg balance of two groups in terms of TagSNPs were analyzed. The odds ratio (OR) and its 95% confidence interval (95%CI) were used to estimate the relative risk of prostate cancer. Results Four TagSNPs of H19 in 145 cases of prostate cancer and 162 cases of healthy people were in Hardy-Weinberg equilibrium state. There was no significant difference in the distribution of rs3024270 and rs217727 genotypes and alleles between the prostate cancer group and the control group (P>0.05). As for the distribution of rs2839698, the frequencies of AA genotype and A allele were 28.3% (41/145) and 47.6% (138/290) in prostate cancer group, higher than 14.2% (23/162) and 36.1% (117/324) in the control group (P<0.05). As for the distribution of rs2735971, the frequencies of CC genotype and C allele were 35.2% (51/145) and 54.1% (157/290), higher than 19.7% (32/162) and 386% (125/324) in the control group (P<0.05). Both rs3024270 and rs217727 have nothing to do with prostate cancer susceptibility. Compared with rs2839698 GG genotype, AA genotype increased risk of prostate cancer to 2.525 folds, while A allele increased to 1.606 folds compared with G allele. Compared with rs2735971 TT genotype, CC and TC+CC genotype increased risk of prostate cancer to 2.820 and 2.017 folds, respectively (P<0.05). For rs2735971, C allele increased risk of prostate cancer to 1.879 folds compared with T allele (P<0.05). Conclusion H19 rs2839698 and rs2735971 are associated with susceptibility to prostate cancer, and the risk of prostate cancer in individuals with mutant alleles is elevated, which is valuable for screening prostate cancer susceptible populations.

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