Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility

Zhu, Jinhong; Jia, Wei Hua; Wu, Chong; Fu, Wen; Xia, Huimin; Liu, Guo-chang; He, Jing

doi:10.1016/j.ebiom.2018.06.018

Cited by 34 publications

(32 citation statements)

References 53 publications

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“…The 145 cases in the study were individuals newly diagnosed with neuroblastoma from the Guangzhou Women and Children’s Medical Center 19, 20, 21, 22, 23, 35. All tumors were histopathologically confirmed.…”

Section: Methodsmentioning

confidence: 99%

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

Zhu

Jia

et al. 2018

Molecular Therapy - Nucleic Acids

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Nucleotide excision repair (NER) is an essential mechanism of the body to defend against exogenous carcinogen-induced DNA damage. Defects in NER may impair DNA repair capacity and, therefore, increase genome instability and cancer susceptibility. To explore genetic predispositions to Wilms tumor, we conducted a case-control study totaling 145 neuroblastoma cases and 531 healthy controls. We systematically selected 19 potentially functional SNPs in six key genes within the NER pathway (ERCC1, XPA, XPC, XPD, XPF, and XPG). The odds ratio (OR) and 95% confidence interval (CI) were calculated to measure the strength of associations. We identified significant associations between two XPD SNPs and Wilms tumor risk. The XPD rs3810366 polymorphism significantly enhanced Wilms tumor risk (dominant model: adjusted OR = 2.12, 95% CI = 1.26–3.57). Likewise, XPD rs238406 conferred a significantly increased risk for the disease (dominant model: adjusted OR = 2.30, 95% CI = 1.40–3.80; recessive model: adjusted OR = 1.64, 95% CI = 1.11–2.44). Moreover, online expression quantitative trait locus (eQTL) analysis demonstrated that these two polymorphisms significantly affected XPD gene expression in transformed fibroblast cells. Our study provides evidence of the association between the two XPD polymorphisms and Wilms tumor risk. However, these findings warrant validation in larger studies.

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Section: Methodsmentioning

confidence: 99%

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

Zhu

Jia

et al. 2018

Molecular Therapy - Nucleic Acids

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“…Participants in the study were recruited from four hospitals in China: Guangzhou Women and Children's Medical Center, The First Affiliated Hospital of Zhengzhou University, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, and The Second Affiliated Hospital of Xi'an Jiao Tong University. Patients were newly diagnosed and histologically confirmed with Wilms tumour.…”

Section: Methodsmentioning

confidence: 99%

“…Participants in the study were recruited from four hospitals in China: Guangzhou Women and Children's Medical Center, 8 The First…”

Section: Study Subjectsmentioning

confidence: 99%

LIN28A gene polymorphisms confer Wilms tumour susceptibility: A four‐centre case‐control study

Zhang

Liu

et al. 2019

J Cellular Molecular Medi

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Wilms tumour is a renal malignancy that commonly occurs in children. LIN28A gene overexpression has been reported to be involved in various human malignancies, while its roles in Wilms tumour risk are still under investigation. Here, we genotyped four LIN28A polymorphisms in 355 Wilms tumour patients and 1070 healthy controls from four hospitals in China. The genotyped single nucleotide polymorphisms (SNPs) include the following: rs3811464 G>A, rs3811463 T>C, rs34787247 G>A and rs11247957 G>A. Overall, we found that rs3811463 T>C and rs34787247 G>A were associated with increased risk of Wilms tumour. Combination analysis of risk genotypes showed that, compared to non‐carriers, subjects with 1 risk genotype and 1‐3 risk genotypes were more likely to develop Wilms tumour, with an adjusted odds ratio (OR) of 1.58 and 1.56, respectively. Stratified analysis further demonstrated that the risk effect remained prominent in some subgroups. We also found that presence of 1‐3 risk genotypes was associated with Wilms tumour risk in subgroups > 18 months of age, females, males and those with clinical stage I + II diseases. Furthermore, expression quantitative trait locus (eQTL) analysis indicated that rs3811463 C allele was significantly associated with increased transcripts of LIN28A gene. These findings suggest that LIN28A gene polymorphisms may be associated with increased predisposition to Wilms tumour.

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“…A total of 145 histopathologically confirmed cases of WT from Guangdong province (Southern China) were included in our study, [15][16][17][18][19][20][21] along with 531 unrelated, age-, gender-, and race-matched cancer-free controls. [22][23][24] Both imaging and pathological examination were used to diagnose the disease.…”

Section: Study Subjectsmentioning

confidence: 99%

Investigation of association between LINC00673 rs11655237 C>T and Wilms tumor susceptibility

Gao

Jia

Zhu

et al. 2019

Clinical Laboratory Analysis

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BackgroundWilms tumor (WT) is the most common pediatric renal malignancy. Previous genome‐wide association studies have identified that the LINC00673 rs11655237 C>T polymorphism is associated with the risk of several types of cancer. However, few studies have investigated the association between LINC00673 rs11655237 C>T and WT susceptibility.MethodWe genotyped LINC00673 rs11655237 C>T in 145 patients with WT and 531 cancer‐free controls recruited from southern Chinese children. The strength of association was estimated by odds ratios (ORs) and 95% confidence intervals (CIs).ResultsOur study indicated that there was no significant association between LINC00673 rs11655237 C>T polymorphism and WT risk under all the tested genetic models (CT vs CC: adjusted OR = 0.94, 95% CI = 0.63‐1.40; TT vs CC: adjusted OR = 0.60, 95% CI = 0.22‐1.59; TT/CT vs CC: adjusted OR = 0.89, 95% CI = 0.61‐1.31; and TT vs CC/CT: adjusted OR = 0.61, 95% CI = 0.23‐1.61). Further stratified analysis detected no significant association, either.ConclusionIn conclusion, we failed to find any association between the LINC00673 rs11655237 C>T polymorphism and WT risk. This finding needs to be verified in larger studies and other populations.

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Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility

Cited by 34 publications

References 53 publications

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

LIN28A gene polymorphisms confer Wilms tumour susceptibility: A four‐centre case‐control study

Investigation of association between LINC00673 rs11655237 C>T and Wilms tumor susceptibility

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