Page 45 - 南京医科大学自然版

第41卷第11期 南京医科大学学报（自然科学版）
2021年11月 Journal of Nanjing Medical University（Natural Sciences） ·1607 ·

·临床研究·

长链非编码RNA H19变异基因型与中国人群肾细胞癌发病风

险及预后的相关性研究

邓夏珩 ，吕 强 ，李鹏超 2*
1
2
1 南京医科大学第一附属医院胸外科，泌尿外科，江苏 南京 210029
2

［摘 要］ 目的：探讨长链非编码 RNA（long non⁃coding RNA，lncRNA）H19 的 rs2839698、rs217727、rs3741216 和 rs3741219
这 4 个位点的多态性遗传变异对肾细胞癌（renal cell carcinoma，RCC）易感性和预后的影响。方法：本研究为自2004年5月开
始的两阶段病例对照研究，共纳入1 014例RCC患者及1 063例健康对照者。其中第一阶段298例RCC患者具有完整的随访资
料。采用TaqMan 探针法实时聚合酶链反应检测患者外周血的4个位点多态性基因分型，通过计算比值比（odds ratio，OR）和

95%置信区间（confidence interval，CI）评估H19多态性与RCC发生风险及临床特征的关系；Kaplan⁃Meier曲线评估临床特征与H19
4个位点不同基因型的生存状态，采用COX回归分析计算不同基因型、TNM分期及病理分级发生死亡结局的风险比（hazardratio，
HR）和95%CI，评估影响RCC预后的独立危险因素。结果：与H19的rs2839698 CC基因型相比，CT/TT基因型人群患RCC风险
增加（P=0.012，OR=1.13，95%CI=1.02~1.55）。CT/TT基因型患者更容易发生大体积肿瘤（P=0.003，OR=1.35，95%CI=1.10~1.73）
和临床高分期（P=0.010，OR=1.63，95%CI=1.08~2.21）；rs2839698 CT/TT 基因型 RCC 患者的 5 年总生存率明显低于 CC 基因型
RCC患者（CT/TT vs. CC：Log⁃rank P=0.027，HR=2.24，95%CI=1.10~4.59）。结论：H19 rs2839698位点基因变异同RCC易感性和
生存相关，其具体的功能影响仍需进一步研究验证。
［关键词］ 肾细胞癌；基因变异；H19；易感性；生存
［中图分类号］ R737.11 ［文献标志码］ A ［文章编号］ 1007⁃4368（2021）11⁃1607⁃07
doi：10.7655/NYDXBNS20211107

Association study of genetic variant in long non⁃coding RNA H19 and renal cell carcinoma
susceptibility and prognosis in Chinese population

2
1
DENG Xiaheng ，LYU Qiang ，LI Pengchao 2*
1 Department of Thoracic，Department of Urology，the First Affiliated Hospital of Nanjing Medical University，Nanjing
2
210029，China

［Abstract］ Objective：This study aims to clarify the effects of H19 genetic variant rs2839698，rs217727，rs3741216 and rs3741219
on renal cell carcinoma（RCC）susceptibility and prognosis. Methods：We conducted this two⁃stage case⁃control study with a total of 1 014
RCC cases and 1 063 controls since May 2004. Total 298 RCC cases in the first stage had complete follow ⁃ up data available.
Genotyping was performed using TaqMan real⁃time polymerase chain reaction assays. Odds ratio（OR）and 95% confidence interval
（CI）were calculated to evaluate the association between H19 polymorphism and RCC risk and clinical characteristics. Kaplan⁃Meier
method was utilized to assess the survival of H19 polymorphisms. Hazard ratio（HR）and 95%CI were calculated by COX regression
model to discover whether genotypes，TNM and grade were the independent prognostic factors. Results：Compared with the
H19 rs2839698 CC genotype，the variant genotypes（CT/TT）were significantly associated with increased risk of RCC（P=0.012，OR=
1.13，95% CI=1.02⁃1.55）. Besides，patients with variant genotypes（CT/TT）were more likely to develop large tumor（P=0.003，OR=
1.35，95% CI=1.10⁃1.73）and advanced disease（P=0.010，OR=1.63，95% CI=1.08⁃2.21）；and had a significantly unfavorable 5⁃year
survival than those with the rs2839698 CC genotype（CT/TT vs. CC：Log⁃rank P=0.027，HR=2.24，95%CI=1.10⁃4.59）. Conclusion：
The results suggested that H19 rs2839698 variant may be a genetic predictor of susceptibility and mortality of RCC. The precise

［基金项目］ 国家自然科学基金（81772111）；南京市卫生科技发展专项（YKK19146）
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通信作者（Corresponding author），E⁃mail：supeokulian@aliyun.com