机构：[1]Kunming Key Laboratory of Children's Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Institute of Pediatrics Research, Kunming Children’s Hospital, Kunming, Yunnan, 650228, People’s Republic of China[2]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 510623, Guangdong, People’s Republic of China[3]Department of Oncology, Kunming Children’s Hospital, Kunming 650228, Yunnan, People’s Republic of China[4]Department of Clinical Laboratory, Biobank, Harbin Medical University Cancer Hospital, Harbin 150040, Heilongjiang, People’s Republic of China[5]Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning, People’s Republic of China中国医科大学附属盛京医院中国医科大学盛京医院[6]Department of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan, People’s Republic of China[7]Clinical Laboratory Medicine Center of PLA, Xijing Hospital, Air Force Medical University, Xi’an 710032, Shaanxi, People’s Republic of China
Background: Hepatoblastoma is a rare disease. Its etiology remains obscure. No epidemiological reports have assessed the relationship of High Mobility Group A2 (HMGA2) single nucleotide polymorphisms (SNPs) with hepatoblastoma risk. This case-control study leads as a pioneer to explore whether HMGA2 SNPs (rs6581658 A>G, rs8756 A>C, rs968697 T>C) could impact hepatoblastoma risk. Methods: We acquired samples from 275 hepatoblastoma cases and 1018 controls who visited one of five independent hospitals located in the different regions of China. The genotyping of HMGA2 SNPs was implemented using the PCR-based TaqMan method, and the risk estimates were quantified by odds ratios (ORs) and 95% confidence intervals (CIs). Results: In the main analysis, we identified that rs968697 T>C polymorphism was significantly related to hepatoblastoma risk in the additive model (adjusted OR=0.73, 95% CP0.54-0.98, P=0.035). Notably, participants carrying 2-3 favorable genotypes had reduced hepatoblastoma risk (adjusted OR=0.71, 95% CP0.52-0.96, P=0.028) in contrast to those carrying 0-1 favorable genotypes. Furthermore, stratification analysis revealed a significant correlation between rs968697 TC/CC and hepatoblastoma risk for males and clinical stage I+II. The existence of 2-3 protective genotypes was correlated with decreased hepatoblastoma susceptibility in children >= 17 months old, males, and clinical stage I+II cases, when compared to 0-1 protective genotype. Conclusion: To summarize, these results indicated that the HMGA2 gene SNPs exert a weak influence on hepatoblastoma susceptibility. Further validation of the current conclusion with a larger sample size covering multi-ethnic groups is warranted.
基金：
National Natural
Science Fund of China (No. 81960294 and 81560262), The
Basic Applied Study Planning Projects of Yunnan Province
(No. 2018FB130), The Joint Special Fund for Basic Research
from Yunnan Provincial Science and Technology and
Kunming Medical University (No. 2017FE467-149), The
High Level Health and Family Planning Technical Personnel
Training Projects of Yunnan Province (No. H-201626),
Kunming Research Center for Exosome Immunotherapy of
Malignant Tumors in Children (No. 2018-SW (R) −5) and the
Guangdong Provincial Key Laboratory of Research in
Structural Birth Defect Disease (No: 2019B030301004).
第一作者机构：[1]Kunming Key Laboratory of Children's Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Institute of Pediatrics Research, Kunming Children’s Hospital, Kunming, Yunnan, 650228, People’s Republic of China
共同第一作者：
通讯作者：
通讯机构：[1]Kunming Key Laboratory of Children's Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Institute of Pediatrics Research, Kunming Children’s Hospital, Kunming, Yunnan, 650228, People’s Republic of China[2]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 510623, Guangdong, People’s Republic of China[*1]Kunming Key Laboratory of Children's Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Institute of Pediatrics Research, Kunming Children’s Hospital, 288 Qianxing Road, Kunming 650228, Yunnan, People’s Republic of China[*2]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, 9 Jinsui Road, Guangzhou 510623, Guangdong, People’s Republic of China
推荐引用方式(GB/T 7714)：
Li Li,Zhuo Zhenjian,Yang Zhen,et al.HMGA2 Polymorphisms and Hepatoblastoma Susceptibility: A Five-Center Case-Control Study[J].PHARMACOGENOMICS & PERSONALIZED MEDICINE.2020,13:51-57.doi:10.2147/PGPM.S241100.
APA：
Li, Li,Zhuo, Zhenjian,Yang, Zhen,Zhu, Jinhong,He, Xiaoli...&Zhang, Tiesong.(2020).HMGA2 Polymorphisms and Hepatoblastoma Susceptibility: A Five-Center Case-Control Study.PHARMACOGENOMICS & PERSONALIZED MEDICINE,13,
MLA：
Li, Li,et al."HMGA2 Polymorphisms and Hepatoblastoma Susceptibility: A Five-Center Case-Control Study".PHARMACOGENOMICS & PERSONALIZED MEDICINE 13.(2020):51-57
