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    已发表论文

    HACE1  基因和神经母细胞瘤易感性在中国南方人群中的常见变化

     

    Authors Zhang Z, Zhang R, Zhu J, Wang F, Yang T, Zou Y, He J, Xia H

    Received 30 November 2016

    Accepted for publication 7 January 2017

    Published 8 February 2017 Volume 2017:10 Pages 703—709

    DOI http://doi.org/10.2147/OTT.S129042

    Checked for plagiarism Yes

    Review by Single-blind

    Peer reviewers approved by Dr Lucy Goodman

    Peer reviewer comments 2

    Editor who approved publication: Dr Samir Farghaly

    Abstract: Neuroblastoma is a common fatal pediatric cancer of the developing sympathetic nervous system, which accounts for ~10% of all pediatric cancer deaths. To investigate genetic risk factors related to neuroblastoma, many genome-wide association studies have been performed, and single nucleotide polymorphisms (SNPs) within HACE1  gene have been identified to associate with neuroblastoma risk. However, the association of the HACE1  SNPs with neuroblastoma needs to be validated in Southern Chinese children. We genotyped five SNPs located in the HACE1  gene (rs4336470 C>T, rs9404576 T>G, rs4079063 A>G, rs2499663 T>C, and rs2499667 A>G) in 256 Southern Chinese patients in comparison with 531 ethnically matched healthy controls. Single locus analysis showed no significant association between any of HACE1  SNPs and neuroblastoma risk in Southern Chinese children. However, when all the risk genotypes were combined, we found a borderline significant trend toward an increased neuroblastoma risk with 4–5 risk genotypes (adjusted odds ratio =1.36, 95% confidence interval =0.98–1.89, =0.065). Moreover, stratified analysis found that carriers of 4–5 risk genotypes tended to develop neuroblastoma in the retroperitoneal region and have more aggressive tumors, progressing to advanced clinical stages III/IV, when compared with those of 0–3 risk genotypes. In conclusion, HACE1  gene may have weak effect on neuroblastoma risk in Southern Chinese children. Large well-designed studies are needed to strengthen our findings.
    Keywords: HACE1 , susceptibility, neuroblastoma, GWAS, polymorphism




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