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HMGA2 基因多态性与中国儿童肾母细胞瘤易感性的相关性:一项四中心病例对照研究。

HMGA2 gene polymorphisms and Wilms tumor susceptibility in Chinese children: a four-center case-control study.

机构信息

Department of Pediatric Surgery, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 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

Biotechnol Appl Biochem. 2020 Nov;67(6):939-945. doi: 10.1002/bab.1857. Epub 2020 Feb 4.

Abstract

Wilms tumor is a kidney malignancy that typically occurs in children. Aberrant expression of HMGA2 gene is commonly seen in many malignant tumors. Yet, HMGA2 gene polymorphisms on Wilms tumor risk are not established. We carried out the first four-center case-control study with 355 patients and 1,070 controls to assess the association of HMGA2 polymorphisms (rs6581658 A>G, rs8756 A>C, and rs968697 T>C) with Wilms tumor risk. All of these three polymorphisms in single could not impact Wilms tumor risk. Stratified analysis revealed a contributing Wilms tumor risk role of rs968697 TC/CC in subgroup of male (TC/CC vs. TT: adjusted odds ratio [OR] = 1.46, 95% confidence interval [CI] = 1.03-2.08, P = 0.035). However, we found that presence of 1-3 protective genotypes were less likely to develop tumor in subgroup of female (adjusted OR = 0.69, 95% CI = 0.48-0.99, P = 0.045). Our findings suggest that HMGA2 gene polymorphisms might influence Wilms tumor predisposition in a weak manner, under certain circumstances.

摘要

肾母细胞瘤是一种常见于儿童的肾脏恶性肿瘤。HMGA2 基因的异常表达常见于许多恶性肿瘤中。然而,HMGA2 基因多态性与肾母细胞瘤风险之间的关系尚未确定。我们进行了首次四项中心病例对照研究,共纳入 355 例患者和 1070 例对照,评估 HMGA2 基因多态性(rs6581658 A>G、rs8756 A>C 和 rs968697 T>C)与肾母细胞瘤风险的关联。这三种单核苷酸多态性均不能影响肾母细胞瘤的风险。分层分析显示 rs968697 TC/CC 基因型与男性亚组的肾母细胞瘤风险增加相关(TC/CC 与 TT:调整后的比值比 [OR] = 1.46,95%置信区间 [CI] = 1.03-2.08,P = 0.035)。然而,我们发现女性亚组中存在 1-3 种保护性基因型的患者发生肿瘤的可能性较小(调整后的 OR = 0.69,95% CI = 0.48-0.99,P = 0.045)。我们的研究结果表明,HMGA2 基因多态性可能以较弱的方式影响肾母细胞瘤的易感性,具体情况可能因环境而异。

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