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基因多态性与中国儿童肝母细胞瘤易感性的关系。

gene polymorphisms and hepatoblastoma susceptibility among Chinese children.

机构信息

Department of Pathology, First Medical Center, Chinese PLA General Hospital, Beijing, Beijing, China.

Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

出版信息

Cell Cycle. 2022 Jul;21(14):1512-1518. doi: 10.1080/15384101.2022.2054635. Epub 2022 Mar 23.

Abstract

Current knowledge on the etiology of hepatoblastoma remains limited. gene has been documented as a susceptibility gene for several types of cancer. However, its role has not been characterized in hepatoblastoma. Herein, we intended to explore whether gene single nucleotide polymorphisms (SNPs) contribute to the risk of hepatoblastoma. A multi-center case-control study was conducted including 358 cases and 1512 controls recruited from the night hospitals in China. Odds ratios (ORs) and 95% confidence intervals (CIs), for the association of gene SNPs with hepatoblastoma risk, were estimated using conditional logistic regression models, adjusted for relevant confounding variables. Four SNPs (rs1477196 G > A, rs9939609 T > A, rs7206790 C > G, and rs8047395 A > G) in the gene were genotyped. We detected a significant association between rs9939609 T > A and decreased risk of hepatoblastoma (TA vs. TT: adjust OR = 0.73, 95% CI = 0.54-0.99, = 0.041; TA/AA vs. TT: adjust OR = 0.73, 95% CI = 0.55-0.97, = 0.032). Compared to 0-3 protective genotypes, carriers with four protective genotypes showed enough strength to protect from hepatoblastoma (adjust OR = 0.65, 95% CI = 0.47-0.91, = 0.012). In stratification analysis, we also detected a significantly decreased risk of hepatoblastoma in subjects with rs9939609 TA/AA or with four protective genotypes in some subgroups. Our results provided some clues for an association of gene SNPs with hepatoblastoma risk in Chinese children.: GWAS, genome-wide association study; , The ; SNP, single nucleotide polymorphism; mA, N6-methyladenosine; mRNA, messenger RNA; LD, linkage disequilibrium; HWE, Hardy-Weinberg equilibrium; OR, odds ratio; CI, confidence interval; AML, acute myeloid leukemia; GSC, glioblastoma stem(-like) cell; HER2, human epidermal growth factor receptor 2.

摘要

目前,关于肝癌发生的病因学仍知之甚少。已发现 基因是多种癌症的易感基因。然而,其在肝癌中的作用尚未确定。在此,我们旨在探讨 基因单核苷酸多态性(SNP)是否会增加肝癌的患病风险。本研究采用多中心病例对照研究,在中国的夜间医院共纳入 358 例肝癌患者和 1512 例对照。采用条件逻辑回归模型估计 基因 SNP 与肝癌风险之间的关联,并对相关混杂因素进行调整。共检测到 基因中的 4 个 SNP(rs1477196 G > A、rs9939609 T > A、rs7206790 C > G 和 rs8047395 A > G)。我们发现 rs9939609 T > A 与肝癌患病风险降低显著相关(TA 与 TT:调整 OR = 0.73,95%CI = 0.54-0.99, = 0.041;TA/AA 与 TT:调整 OR = 0.73,95%CI = 0.55-0.97, = 0.032)。与 0-3 种保护基因型相比,携带 4 种保护基因型的个体患肝癌的风险显著降低(调整 OR = 0.65,95%CI = 0.47-0.91, = 0.012)。在分层分析中,我们还发现 rs9939609 TA/AA 或 4 种保护基因型与一些亚组中肝癌患病风险显著降低相关。我们的结果为中国儿童中 基因 SNP 与肝癌风险的关联提供了一些线索。GWAS:全基因组关联研究; :肿瘤抑制基因;SNP:单核苷酸多态性;mA:N6-甲基腺苷;mRNA:信使 RNA;LD:连锁不平衡;HWE:哈迪-温伯格平衡;OR:比值比;CI:置信区间;AML:急性髓细胞白血病;GSC:胶质母细胞瘤干细胞;HER2:人表皮生长因子受体 2。

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Hepatoblastoma and Pediatric Hepatocellular Carcinoma: An Update.肝母细胞瘤和小儿肝细胞癌:最新进展。
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