<i>HOTAIR</i> gene polymorphisms contribute to increased neuroblastoma susceptibility in Chinese children

Xu, Yang; He, Jing; Chang, Yitian; Luo, Annie Z.; Luo, A-Li; Zhang, Jiao; Zhang, Ruizhong; Xia, Hongmei; Xu, Ling

doi:10.1002/cncr.31353

Cited by 31 publications

(25 citation statements)

References 67 publications

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“…In addition, a total of 469 NB cases and 998 healthy controls were also included in this study [43]. Of those, 275 NB cases and 531 controls were from Guangzhou Women and Children’s Medical Center [44–46], 118 cases and 281 controls were from The First Affiliated Hospital of Zhengzhou University [47–49], and 76 NB cases and 186 controls were from the Second Affiliated Hospital of Xi'an Jiaotong University (Supplementary Table 2). The cases were patients diagnosed with NB, and the controls were recruited from the same hospitals.…”

Section: Methodsmentioning

confidence: 99%

Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma

Zhao

Zhu

Xie

et al. 2019

Aging

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Hirschsprung disease (HSCR) is a heterogeneous congenital disorder that affects the enteric nervous system, while neuroblastoma is an embryonal tumor of the sympathetic nervous system. Familial cases of both HSCR and neuroblastoma appear to be functionally linked to PHOX2B , which plays a key role in the development of neural crest derivatives. However, the association between common PHOX2B variants and disease risk is contested. Additionally, large-scale examination for pleiotropy or shared genetic susceptibility in sporadic HSCR and neuroblastoma cases lacks theoretical support. Here, we report the first examination of PHOX2B in 1470 HSCR and 469 neuroblastoma patients with matched healthy controls. The PHOX2B rs28647582 polymorphism was found to be associated with HSCR (P = 2.21E-03, OR = 1.26), and each subtype of the ailment (3.22E-03 ≤ P ≤ 0.43, 1.11 ≤ OR ≤ 2.32). The association between rs28647582 and NB risk was consistent with HSCR in a recessive model, though the P value was marginal (P = 0.06). These new genetic findings indicate the potential pleiotropic effects of PHOX2B in both HSCR and neuroblastoma, which could guide the development of therapeutic targets for the treatment of related neurodevelopmental disorders.

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Section: Methodsmentioning

confidence: 99%

Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma

Zhao

Zhu

Xie

et al. 2019

Aging

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“…Recently, the correlation between neuroblastoma susceptibility and HOTAIR has been reported in Chinese children. By association analysis and further stratification, three HOTAIR SNPs, rs12826786, rs874945 and rs1899663, were identified as being associated with increased neuroblastoma risk, predominantly in females and among patients with a tumor in the retroperitoneal region or mediastinum [42]. Also, in a Chinese case–control study, the association of the GWAS-identified lncRNA LINC00673 rs11655237 polymorphism with neuroblastoma susceptibility was assessed, confirming that this allele significantly increased the risk of tumor, particularly in cancer originating from the adrenal gland and clinical stage IV neuroblastoma [43].…”

Section: Methods For Detection Of Snps and Measurement Of Associatmentioning

confidence: 99%

SNPs and Somatic Mutation on Long Non-Coding RNA: New Frontier in the Cancer Studies?

et al. 2018

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In the last decade, it has been demonstrated that long non-coding RNAs (lncRNAs) are involved in cancer development. The great majority of studies on lncRNAs report alterations, principally on their expression profiles, in several tumor types with respect to the normal tissues of origin. Conversely, since lncRNAs constitute a relatively novel class of RNAs compared to protein-coding transcripts (mRNAs), the landscape of their mutations and variations has not yet been extensively studied. However, in recent years an ever-increasing number of articles have described mutations of lncRNAs. Single-nucleotide polymorphisms (SNPs) that occur within the lncRNA transcripts can affect the structure and function of these RNA molecules, while the presence of a SNP in the promoter region of a lncRNA could alter its expression level. Also, somatic mutations that occur within lncRNAs have been shown to exert important effects in cancer and preliminary data are promising. Overall, the evidence suggests that SNPs and somatic mutation on lncRNAs may play a role in the pathogenesis of cancer, and indicates strong potential for further development of lncRNAs as biomarkers.

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“…The characteristics of participants were described in our previous studies ( Supplementary Table 1 ) [ 33 – 36 ]. The genotype frequencies of the four XRCC1 polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) in the neuroblastoma cases and controls are presented in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

“…Details of the selection criteria and characteristics of the study participants were provided elsewhere [ 33 – 36 ]. In brief, 393 neuroblastoma cases and 812 healthy controls were included in this study.…”

Section: Methodsmentioning

confidence: 99%

XRCC1 gene polymorphisms and risk of neuroblastoma in Chinese children

Zhang

et al. 2018

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Neuroblastoma is a common pediatric extra-cranial tumor of the sympathetic nervous system. XRCC1 is a scaffold protein that participates in DNA single-strand break repair by complexing with other proteins. XRCC1 gene polymorphisms are being increasingly explored in cancer epidemiology studies. However, the contribution of XRCC1 gene polymorphisms to neuroblastoma risk remains unclarified. Herein, we conducted a case-control study with 393 neuroblastoma patients and 812 controls to explore the association of XRCC1 gene polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) with neuroblastoma risk. Results showed that none of the studied polymorphisms was associated with neuroblastoma risk. However, individuals with 2 risk genotypes seemed to be at significantly higher risk for neuroblastoma compared with those without risk genotype (adjusted odds ratio=1.69; 95% confidence interval=1.06-2.69). Stratified analysis revealed that the XRCC1 rs25489 CT/TT was strongly associated with reduced risk of neuroblastoma in the children ≤ 18 months of age and subgroup with clinical stage I+II+4s diseases, compared with CC genotypes. We also identified an increased neuroblastoma risk for carrier of 2-3 risk genotypes among children ≤ 18 months of age and subgroup with clinical stage I+II+4s. More evidence of the association between XRCC1 gene polymorphisms and neuroblastoma risk is needed.

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HOTAIR gene polymorphisms contribute to increased neuroblastoma susceptibility in Chinese children

Abstract: The results of the current study verified that HOTAIR gene polymorphisms are associated with increased neuroblastoma risk and suggest that HOTAIR gene polymorphisms might be a potential biomarker for neuroblastoma susceptibility. Cancer 2018;124:2599-606. © 2018 American Cancer Society.

Cited by 31 publications

References 67 publications

Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma

Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma

SNPs and Somatic Mutation on Long Non-Coding RNA: New Frontier in the Cancer Studies?

XRCC1 gene polymorphisms and risk of neuroblastoma in Chinese children

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