scholarly journals METTL14 gene polymorphisms decrease Wilms tumor susceptibility in Chinese children

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhenjian Zhuo ◽  
Rui-Xi Hua ◽  
Huizhu Zhang ◽  
Huiran Lin ◽  
Wen Fu ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Gene Polymorphisms ◽  
Haplotype Analysis ◽  
Wilms Tumor ◽  
Joint Analysis ◽  
Protective Effects ◽  
Genetic Modifiers ◽  
Tumor Susceptibility ◽  
Positive Report ◽  
Stratified Analysis

Abstract Background Wilms tumor is a highly heritable malignancy. Aberrant METTL14, a critical component of N6-methyladenosine (m6A) methyltransferase, is involved in carcinogenesis. The association between genetic variants in the METTL14 gene and Wilms tumor susceptibility remains to be fully elucidated. We aimed to assess whether variants within this gene are implicated in Wilms tumor susceptibility. Methods A total of 403 patients and 1198 controls were analyzed. METTL14 genotypes were assessed by TaqMan genotyping assay. Result Among the five SNPs analyzed, rs1064034 T > A and rs298982 G > A exhibited a significant association with decreased susceptibility to Wilms tumor. Moreover, the joint analysis revealed that the combination of five protective genotypes exerted significantly more protective effects against Wilms tumor than 0–4 protective genotypes with an OR of 0.69. The stratified analysis further identified the protective effect of rs1064034 T > A, rs298982 G > A, and combined five protective genotypes in specific subgroups. The above significant associations were further validated by haplotype analysis and false-positive report probability analysis. Preliminary mechanism exploration indicated that rs1064034 T > A and rs298982 G > A are correlated with the expression and splicing event of their surrounding genes. Conclusions Collectively, our results suggest that METTL14 gene SNPs may be genetic modifiers for the development of Wilms tumor.

scholarly journals AURKA rs8173 G>C Polymorphism Decreases Wilms Tumor Risk in Chinese Children

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Tongyi Lu ◽  
Li Li ◽  
Jinhong Zhu ◽  
Jiabin Liu ◽  
Ao Lin ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Wilms Tumor ◽  
Clinical Stage ◽  
Common Type ◽  
Chinese Children ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tumor Susceptibility ◽  
Tumor Risk ◽  
Strength Of Association

Wilms tumor is the most common type of renal malignancy in children. Previous studies have demonstrated that single nucleotide polymorphisms (SNPs) in the AURKA gene could predispose to several human malignancies. We recruited 145 cases and 531 cancer-free controls to investigate whether AURKA gene variants modify Wilms tumor susceptibility. Three AURKA SNPs (rs1047972 C>T, rs2273535 T>A, and rs8173 G>C) were genotyped by the Taqman methodology. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of association between AURKA SNPs and Wilms tumor risk. We found that only the rs8173 G>C polymorphism was significantly associated with Wilms tumor risk (GC vs. GG: adjusted OR (AOR) = 0.50, 95% CI = 0.35–0.73, P=0.0002; GC/CC vs. GG: AOR = 0.60, 95% CI = 0.42–0.88, P=0.008). Stratification analysis revealed that rs8173 GC/CC genotypes were associated with Wilms tumor risk among children aged >18 months (AOR = 0.56, 95% CI = 0.34–0.93, P=0.024), male children (AOR = 0.54, 95% CI = 0.33–0.90, P=0.017), and children with clinical stage III + IV diseases (AOR = 0.56, 95% CI = 0.35–0.90, P=0.017). Haplotype analysis indicated that the CAG haplotype was significantly associated with increased Wilms tumor risk. In conclusion, our findings indicated that the AURKA rs8173 G>C polymorphism was associated with decreased Wilms tumor risk in Chinese children.

YTHDC1 gene polymorphisms and Wilms tumor susceptibility in Chinese children: A five-center case-control study

Gene ◽  
2021 ◽  
Vol 783 ◽  
pp. 145571
Author(s):  
Ao Lin ◽  
Rui-Xi Hua ◽  
Mingming Zhou ◽  
Wen Fu ◽  
Jiao Zhang ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Case Control Study ◽  
Wilms Tumor ◽  
Case Control ◽  
Chinese Children ◽  
Tumor Susceptibility ◽  
Control Study

scholarly journals Associations between LMO1 gene polymorphisms and Wilms' tumor susceptibility

Oncotarget ◽  
2017 ◽  
Vol 8 (31) ◽  
pp. 50665-50672 ◽  
Author(s):  
Guo-Chang Liu ◽  
Zhen-Jian Zhuo ◽  
Shi-Bo Zhu ◽  
Jinhong Zhu ◽  
Wei Jia ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Wilms Tumor ◽  
Tumor Susceptibility

scholarly journals Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility

2019 ◽  
Vol 39 (10) ◽  
Author(s):  
Ao Lin ◽  
Wen Fu ◽  
Wenwen Wang ◽  
Jinhong Zhu ◽  
Jiabin Liu ◽  
...  
Keyword(s):  
Cellular Proliferation ◽  
Wilms Tumor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Phox2b Gene ◽  
Tumor Susceptibility ◽  
Pediatric Solid Tumors ◽  
Tumor Risk ◽  
Proliferation And Differentiation ◽  
Stratified Analysis

Abstract Wilms tumor is one of the most common pediatric solid tumors. The pair-like homeobox 2b (PHOX2B) gene is an important transcription factor that regulates cellular proliferation and differentiation in early life. The association between PHOX2B single nucleotide polymorphisms (SNPs) and Wilms tumor risk has not been investigated. Therefore, we conducted a case-control study involving 145 Wilms tumor patients and 531 controls to explore the association between the PHOX2B rs28647582 T>C polymorphism and Wilms tumor susceptibility. The association between the PHOX2B rs28647582 T>C polymorphism and Wilms tumor susceptibility was assessed by odds ratios (ORs) and 95% confidence intervals (CIs). Our results indicated that PHOX2B rs28647582 T>C polymorphism did not significantly alter Wilms tumor susceptibility. However, in the stratified analysis, we found that TC/CC genotypes significantly increased Wilms tumor risk among children older than 18 months (adjusted OR = 1.77, 95% CI = 1.07–2.95, P=0.027) and those with clinical stages III+IV (adjusted OR = 1.75, 95% CI = 1.09–2.82, P=0.022), when compared with those with TT genotype. Our study suggested that PHOX2B rs28647582 T>C was weakly associated with Wilms tumor susceptibility. Our conclusions need further validation with a larger sample size.

scholarly journals ALKBH5 Gene Polymorphisms and Hepatoblastoma Susceptibility in Chinese Children

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Hui Ren ◽  
Zhen-Jian Zhuo ◽  
Fei Duan ◽  
Yong Li ◽  
Zhonghua Yang ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Clinical Stage ◽  
Taqman Assay ◽  
Eqtl Analysis ◽  
Nucleotide Polymorphisms ◽  
Logistic Regression Models ◽  
Functional Annotations ◽  
Trait Locus ◽  
Positive Report ◽  
Stratified Analysis

Incidence of hepatoblastoma has been increasing, but the causes of this disease remain unclear. Some studies have suggested that abnormal expressions of ALKBH5 gene are associated with multiple cancers. This study aims to test the hypothesis that hepatoblastoma risk may be modulated by genetic polymorphisms in ALKBH5 gene based on genotyped data from samples of 328 cases and 1476 controls enrolled from eight hospitals in China. We used TaqMan assay to genotype ALKBH5 gene single nucleotide polymorphisms (SNPs) rs1378602G > A and rs8400G > A. We calculated the odds ratios (ORs) and P values using logistic regression models to estimate the association between hepatoblastoma risk and ALKBH5 gene SNPs. We found the rs1378602G > A and rs8400G > A could not impact hepatoblastoma risk in single or combined analysis. Stratified analysis revealed that subjects with the rs8400 AA genotype are prone to getting hepatoblastoma in the clinical stage III + IV subgroup (adjusted OR = 1.93, 95% CI = 1.20–3.10, P = 0.007 ), when compared to those with GG/GA genotype. False-positive report probability validated the reliability of the significant results. Preliminary functional annotations revealed that rs8400 A is correlated with increased expression of ALKBH5 gene in the expression quantitative trait locus (eQTL) analysis. In all, our investigation presents evidence of a weak impact of ALKBH5 gene polymorphisms on hepatoblastoma risk, using the largest hepatoblastoma sample size. These findings shed some light on the genetic basis of hepatoblastoma, implicating the role of ALKBH5 gene polymorphisms in the etiology of hepatoblastoma.

scholarly journals MYCN gene polymorphisms and Wilms tumor susceptibility in Chinese children

2019 ◽  
Vol 33 (9) ◽  
Author(s):  
Xiaokai Huang ◽  
Jie Zhao ◽  
Jinhong Zhu ◽  
Shanshan Chen ◽  
Wen Fu ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Wilms Tumor ◽  
Chinese Children ◽  
Tumor Susceptibility ◽  
Mycn Gene

scholarly journals Genetic Polymorphisms of the TGFB1 Signal Peptide and Promoter Region: Role in Wilms Tumor Susceptibility?

2021 ◽  
Vol 8 (4) ◽  
pp. 22-31
Author(s):  
Cintya Mayumi Ishibashi ◽  
Carlos Eduardo Coral de Oliveira ◽  
Roberta Losi Guembarovski ◽  
Bruna Karina Banin-Hirata ◽  
Glauco Akelinghton Freire Vitiello ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Signal Peptide ◽  
Haplotype Analysis ◽  
Wilms Tumor ◽  
Recessive Model ◽  
Tumor Susceptibility ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Regression Tests ◽  
Peptide Region

The aim of the present study was to investigate the rs1800468 (G-800A), rs1800469 (C-509T), rs1800470 (C29T), and rs1800471 (G74C) TGFB1 genetic polymorphisms and their haplotype structures in patients with Wilms Tumor (WT) and neoplasia-free controls. The genomic DNA was extracted from 35 WT patients and 160 neoplasia-free children, and the TGFB1 polymorphisms were genotyped by polymerase chain reaction, followed by restriction fragment length polymorphism. The haplotype structures were inferred, and permutation and logistic regression tests were performed to check for differences in haplotype distribution between the control and WT individuals. Positive associations were found in the recessive model for rs1800469 T allele (OR: 8.417; 95% CI: 3.177 to 22.297; P < 0.001) and for the rs1800470 C allele (OR: 3.000; 95% CI: 1.296 to 6.944; P = 0.01). Haplotype analysis revealed a significant negative association between GCTG and WT (OR: 0.236, 95% CI: 0.105 to 0.534; P = 0.0002); by contrast, the GTTG haplotype was associated with increased risk for WT (OR: 12.0; 95% CI: 4.202 to 34.270; P < 0.001). Furthermore, rs1800469 was negatively correlated with tumor size and a trend toward a positive correlation for capsular invasion was observed in the dominant model (Tau-b: −0.43, P = 0.02 and tau-b: 0.5, P = 0.06, respectively). This is the first study with rs1800468, rs1800469, rs1800470, and rs1800471 TGFB1 polymorphisms in WT, and our results suggest that the TGFB1 promoter and signal peptide region polymorphisms may be associated with WT susceptibility and clinical presentation.

scholarly journals MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maciej K. Janik ◽  
Wiktor Smyk ◽  
Beata Kruk ◽  
Benedykt Szczepankiewicz ◽  
Barbara Górnicka ◽  
...  
Keyword(s):  
Antioxidant Activity ◽  
Autoimmune Hepatitis ◽  
Genetic Variants ◽  
Study Cohort ◽  
Total Antioxidant Activity ◽  
Protective Effects ◽  
Genetic Modifiers ◽  
Risk Variant ◽  
Risk Of Death ◽  
Total Antioxidant

AbstractThe clinical picture of autoimmune hepatitis (AIH) varies markedly between patients, potentially due to genetic modifiers. The aim of this study was to evaluate genetic variants previously associated with fatty liver as potential modulators of the AIH phenotype. The study cohort comprised 313 non-transplanted adults with AIH. In all patients, the MARC1 (rs2642438), HSD17B13 (rs72613567), PNPLA3 (rs738409), TM6SF2 (rs58542926), and MBOAT7 (rs641738) variants were genotyped using TaqMan assays. Mitochondrial damage markers in serum were analyzed in relation to the MARC1 variant. Carriers of the protective MARC1 allele had lower ALT and AST (both P < 0.05). In patients treated for AIH for ≥ 6 months, MARC1 correlated with reduced AST, ALP, GGT (all P ≤ 0.01), and lower APRI (P = 0.02). Patients carrying the protective MARC1 genotype had higher total antioxidant activity (P < 0.01) and catalase levels (P = 0.02) in serum. The PNPLA3 risk variant was associated with higher MELD (P = 0.02) in treated patients, whereas MBOAT7 increased the odds for liver cancer (OR = 3.71). None of the variants modulated the risk of death or transplantation. In conclusion, the MARC1 polymorphism has protective effects in AIH. Genotyping of MARC1, PNPLA3, and MBOAT7 polymorphisms might help to stratify patients with AIH.

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