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Single nucleotide polymorphism rs11669203 in TGFBR3L is associated with the risk of neuroblastoma in a Chinese population

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机构： [1]Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Beijing Key Lab Pediat Dis Otolaryngol Head & Nec, Beijing, Peoples R China; [2]Capital Med Univ, Beijing Childrens Hosp, Dept Surg Oncol, Beijing, Peoples R China; [3]Capital Med Univ, Beijing Childrens Hosp, Dept Head & Neck Surg, Beijing, Peoples R China; [4]US FDA, Natl Ctr Toxicol Res, Jefferson, AR 72079 USA

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关键词： MYCN Neuroblastoma Single nucleotide polymorphisms TGFBR3L

摘要：

With a primary mortality, neuroblastoma (NB) is the most common extracranial solid tumor in childhood. Amplification of the MYCN (v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog) oncogene is observed in 20-30 % of NB cases, a feature which also characterizes a highly aggressive subtype of the disease. However, the systematic study of association between single nucleotide polymorphisms (SNPs) in MYCN-regulated genes and the risk of NB has not been investigated. In the current study, we scanned a set of 16 SNPs located within known or predicted MYCN binding sites in a cohort of 247 patients of Chinese origin with neuroblastic family tumors, including neuroblastoma (NB), ganglioneuroma (GN), and ganglioneuroblastoma (GNB), and in 290 cancer-free controls to determine whether any of the tested SNPs are associated with neuroblastic family tumors. We found that the rs11669203 G > C polymorphism, located in TGFBR3L promoter, is significantly associated with the risk of NB. Further, we found that this association is site specific to adrenal NB compared to non-adrenal NB. In addition, transcriptome analysis indicated that increased expression of TGFBR3L is strongly correlated with poor survival. The SNP rs11669203 located at the MYCN binding site of TGFBR3L is significantly associated with elevated risk of NB, and abnormal MYCN-regulated TGFBR3L expression may contribute to NB oncogenesis.

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出版当年[2015]版：

大类 | 3 区医学

小类 | 3 区肿瘤学

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无

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出版当年[2014]版：

Q2 ONCOLOGY

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无

影响因子： 0 最新[2023版] 0 最新五年平均 3.611 出版当年[2014版] 3.404 出版当年五年平均 2.84 出版前一年[2013版] 2.926 出版后一年[2015版]

第一作者：

第一作者机构： [1]Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Beijing Key Lab Pediat Dis Otolaryngol Head & Nec, Beijing, Peoples R China;

通讯作者：

通讯机构： [1]Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Beijing Key Lab Pediat Dis Otolaryngol Head & Nec, Beijing, Peoples R China; [4]US FDA, Natl Ctr Toxicol Res, Jefferson, AR 72079 USA

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