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

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.

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

Journal of Oncology ◽

10.1155/2019/9074908 ◽

2019 ◽

Vol 2019 ◽

pp. 1-7 ◽

Cited By ~ 1

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.

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H19 gene polymorphisms and Wilms tumor risk in Chinese children: a four-center case-control study

10.21203/rs.2.23509/v1 ◽

2020 ◽

Author(s):

Wenya Li ◽

Rui-Xi Hua ◽

Mi Wang ◽

Da Zhang ◽

Jinhong Zhu ◽

...

Keyword(s):

Wilms Tumor ◽

Clinical Stage ◽

Genetic Variations ◽

Nucleotide Polymorphisms ◽

Predisposing Factor ◽

Single Nucleotide ◽

Tumor Risk ◽

H19 Gene ◽

Stratified Analysis ◽

Control Study

Abstract Background: Wilms tumor is the most common pediatric renal cancer. However, genetic bases behind Wilms tumor remain largely unknown. H19 is a critical maternally imprinted gene. Previous studies indicated that Single nucleotide polymorphisms (SNPs) in the H19 can modify the risk of several human malignancies. Epigenetic errors at the H19 locus lead to biallele silencing in Wilms tumors. Genetic variations in the H19 may be related to Wilms tumor susceptibility.Methods: We conducted a four-center study to investigate whether H19 SNPs was a predisposing factor to Wilms tumor. Three polymorphisms in the H19 (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) were genotyped in 355 cases and 1070 cancer-free controls,using Taqman method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to evaluate the strength of the associations.Results: We found that all of these three polymorphisms were significantly associated with Wilms tumor risk alterations. Carriers of 1, 2 and 1-2 risk genotypes were inclined to develop Wilms tumor compared with those without risk genotype [adjusted odds ratio (OR)=1.36, 95% confidence interval (CI)=1.02-1.80, P =0.037; adjusted OR=1.84, 95% CI=1.27-2.67, P =0.001; adjusted OR=1.50, 95% CI=1.17-1.92, P =0.002, respectively]. The stratified analysis further revealed that rs2839698 AA, rs217727 AA, and 1-2 risk genotypes could strongly increase Wilms tumor risk among children above 18 months of age, males, and with clinical stage I+II disease.Conclusion: Our findings indicate that genetic variations in the H19 may confer Wilms tumor risk.

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H19 gene polymorphisms and Wilms tumor risk in Chinese children: a four-center case-control study

10.21203/rs.2.23509/v2 ◽

2020 ◽

Author(s):

Wenya Li ◽

Rui-Xi Hua ◽

Mi Wang ◽

Da Zhang ◽

Jinhong Zhu ◽

...

Keyword(s):

Case Control Study ◽

Wilms Tumor ◽

Genetic Variations ◽

Nucleotide Polymorphisms ◽

Predisposing Factor ◽

Tumor Susceptibility ◽

Tumor Risk ◽

Male Patients ◽

Stratified Analysis ◽

Control Study

Abstract Background Wilms tumor is the most common pediatric renal cancer. However, genetic bases behind Wilms tumor remain largely unknown. H19 is a critical maternally imprinted gene. Previous studies indicated that nucleotide polymorphisms (SNPs) in the H19 can modify the risk of several human malignancies. Epigenetic errors at the H19 locus lead to biallele silencing in Wilms tumors. Genetic variations in the H19 may be related to Wilms tumor susceptibility. Methods We conducted a four-center study to investigate whether H19 SNPs was a predisposing factor to Wilms tumor. Three polymorphisms in the H19 (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) were genotyped in 355 cases and 1070 cancer-free controls, using Taqman method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to evaluate the strength of the associations. Results We found that all of these three polymorphisms were significantly associated with Wilms tumor risk alterations. Carriers of 1, 2 and 1-2 risk genotypes were inclined to develop Wilms tumor compared with those without risk genotype (adjusted OR=1.36, 95% CI=1.02-1.80, P=0.037; adjusted OR=1.84, 95% CI=1.27-2.67, P=0.001; adjusted OR=1.50, 95% CI=1.17-1.92, P=0.002, respectively). The stratified analysis further revealed that rs2839698 AA, rs217727 AA, and 1-2 risk genotypes could strongly increase Wilms tumor risk among male patients above 18 months of age.Conclusion Our findings indicate that genetic variations in the H19 may confer Wilms tumor risk.

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miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children

Bioscience Reports ◽

10.1042/bsr20193989 ◽

2020 ◽

Vol 40 (5) ◽

Author(s):

Yi Zheng ◽

Tongyi Lu ◽

Xiaoli Xie ◽

Qiuming He ◽

Lifeng Lu ◽

...

Keyword(s):

Disease Risk ◽

Malignant Tumors ◽

Hirschsprung Disease ◽

Chinese Children ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Functional Region ◽

Tumor Susceptibility ◽

Southern Chinese ◽

Stratified Analysis

Abstract MicroRNAs (miRNAs) are endogenous non-coding small RNAs that play an important role in the development of many malignant tumors. In addition, recent studies have reported that single nucleotide polymorphisms (SNPs) located in the miRNA functional region was inextricably linked to tumor susceptibility. In the present study, we investigated the susceptibility between miR-618 rs2682818 C>A and Hirschsprung disease (HSCR) in the Southern Chinese population (1470 patients and 1473 controls). Odds ratios (ORs) and 95% confidence intervals (CIs) were used for estimating the strength of interrelation between them. We found that the CA/AA genotypes of miR-618 rs2682818 were associated with a decreased risk of HSCR when compared with the CC genotype (OR = 0.84, 95% CI = 0.72–0.99, P=0.032). Based on the stratified analysis of HSCR subtypes, the rs2682818 CA/AA genotypes were able to significantly lessen the risk of HSCR compared with CC genotype in patients with long-segment HSCR (adjusted OR = 0.70, 95% CI = 0.52–0.93, P=0.013). In conclusion, our results indicated that the miR-618 rs2682818 C>A polymorphism was associated with a reduced risk of HSCR in Chinese children, especially in patients with long-segment HSCR (L-HSCR) subtype.

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Association of miRNA biosynthesis genes DROSHA and DGCR8 polymorphisms with cancer susceptibility: a systematic review and meta-analysis

Bioscience Reports ◽

10.1042/bsr20180072 ◽

2018 ◽

Vol 38 (3) ◽

Cited By ~ 4

Author(s):

Jing Wen ◽

Zhi Lv ◽

Hanxi Ding ◽

Xinxin Fang ◽

Mingjun Sun

Keyword(s):

Cancer Risk ◽

Genetic Model ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Population Based ◽

Nucleotide Polymorphisms ◽

Case Control Studies ◽

Exclusion Criteria ◽

Single Nucleotide ◽

Stratified Analysis

Single nucleotide polymorphisms (SNPs) in miRNA biosynthesis genes DROSHA and DGCR8 were indicated to be correlated with cancer risk. We comprehensively reviewed and analyzed the effect of DROSHA and DGCR8 polymorphisms on cancer risk. Eligible articles were selected according to a series of inclusion and exclusion criteria. Consequently, ten case–control studies (from nine citations) with 4265 cancer cases and 4349 controls were involved in a meta-analysis of seven most prevalent SNPs (rs10719 T/C, rs6877842 G/C, rs2291109 A/T, rs642321 C/T, rs3757 G/A, rs417309 G/A, rs1640299 T/G). Our findings demonstrated that the rs417309 SNP in DGCR8 was significantly associated with an elevated risk of overall cancer in every genetic model. In stratified analysis, correlations of DROSHA rs10719 and rs6877842 SNPs were observed in Asian and laryngeal cancer subgroups, respectively. Moreover, associations of the rs417309 SNP could also be found in numerous subgroups including: Asian and Caucasian population subgroups; laryngeal and breast cancer subgroups; population-based (PB) and hospital-based (HB) subgroups. In conclusion, the DROSHA rs10719, rs6877842 SNPs, and DGCR8 rs417309 SNP play pivotal roles in cancerogenesis and may be potential biomarkers for cancer-forewarning.

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TP53 rs1042522 C>G polymorphism and Wilms tumor susceptibility in Chinese children: a four-center case–control study

Bioscience Reports ◽

10.1042/bsr20181891 ◽

2019 ◽

Vol 39 (1) ◽

Cited By ~ 5

Author(s):

Peng Liu ◽

Zhenjian Zhuo ◽

Wenya Li ◽

Jiwen Cheng ◽

Haixia Zhou ◽

...

Keyword(s):

Significant Relationship ◽

Wilms Tumor ◽

Tp53 Gene ◽

Chinese Children ◽

Logistic Regression Models ◽

Tumor Susceptibility ◽

Tumor Risk ◽

Larger Sample ◽

Control Study

Abstract Wilms tumor is the most common renal malignancy that occurs in children. TP53 gene is considered as a tumor-suppressing gene through controlling cell growth. TP53 gene rs1042522 C>G (Arg72Pro) polymorphism is widely investigated in various types of cancers. However, it is not established if TP53 rs1042522 C>G polymorphism is a candidate variant for Wilms tumor risk. The aim of the study was to determine whether TP53 rs1042522 C>G polymorphism is responsible for the risk of Wilms tumor in Chinese children. All subjects (355 cases and 1070 controls) from four centers of China were genotyped for rs1042522 C>G polymorphism. The effect of rs1042522 C>G polymorphism on Wilms tumor prevalence was analyzed using logistic regression models. We failed to detect a significant relationship between rs1042522 C>G polymorphism and Wilms tumor risk. Further stratification analysis also could not detect a significant relationship. We conclude that TP53 rs1042522 C>G polymorphism might not have enough impact on the risk of Wilms tumor. More validation study with larger sample size will be required to better define the role of TP53 rs1042522 C>G polymorphism in Wilms tumor risk.

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Association of Polymorphisms of Metabolism-Related Genes with Psoriasis Vulgaris in Han Chinese

BioMed Research International ◽

10.1155/2021/9920631 ◽

2021 ◽

Vol 2021 ◽

pp. 1-5

Author(s):

Yu Liu ◽

Xin Li ◽

Yan-Ping Huang ◽

Zi-Yu Cui ◽

Jia Bao ◽

...

Keyword(s):

Metabolic Syndrome ◽

Psoriasis Vulgaris ◽

Chronic Inflammatory Disease ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Stratified Analysis ◽

The Relationship

Aim. Psoriasis is a chronic inflammatory disease with a complex etiology, and psoriasis vulgaris (PsV) is the most common type of psoriasis. Recent studies suggest the relationship between psoriasis and metabolic syndrome in different ethnicities. This study is aimed at evaluating the association of metabolism-related gene variants with the risk of PsV in Chinese Han population. Material and Methods. PsV patients (1030) and healthy controls (965) were enrolled in this study. Eighteen single-nucleotide polymorphisms (SNPs) previously reported to be significantly associated with metabolic syndrome were selected. SNPs were detected by next-generation sequencing. Results. Seven SNPs were significantly associated with PsV: rs805303 ( P = 0.012 , OR = 0.85 ), rs3177928 ( P = 1.37 × 10 − 15 , OR = 2.51 ), and rs2247056 ( P = 3.73 × 10 − 4 , OR = 0.67 ) located in the HLA gene region; rs1047781 ( P = 0.012 , OR = 1.18 ), rs281379 ( P = 0.014 , OR = 1.71 ), and rs492602 ( P = 0.005 , OR = 1.86 ) located in the FUT2 region; and rs2303138 ( P = 0.014 , OR = 1.18 ) located in the LNPEP region. After stratified analysis, rs805303 ( P = 0.017 , OR = 0.74 ) and rs2303138 ( P = 0.041 , OR = 1.30 ) were associated with PsVs when HLA-C ∗ 06 : 02 was positive, and rs805303 ( P = 5.62 × 10 − 5 , OR = 0.68 ), rs3177928 ( P = 0.003 , OR = 1.75 ), rs281379 ( P = 0.034 , OR = 1.96 ), and rs492602 ( P = 0.025 , OR = 2.04 ) were associated with PsVs when HLA-C ∗ 06 : 02 was negative. Conclusion. PsV and metabolic syndrome may have overlapped susceptible genes in Chinese Han population.

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Role of GSPT1 and GSPT2 polymorphisms in different outcomes upon Hepatitis B virus infection and prognosis to lamivudine therapy

Bioscience Reports ◽

10.1042/bsr20181668 ◽

2019 ◽

Vol 39 (3) ◽

Author(s):

Wenxuan Liu ◽

Ning Ma ◽

Xia Gao ◽

Wencong Liu ◽

Jinhai Jia ◽

...

Keyword(s):

Hepatitis B Virus ◽

Hepatitis B ◽

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Lamivudine Therapy ◽

Single Nucleotide ◽

Tumor Susceptibility ◽

B Virus ◽

First Time

Abstract Purpose. ERF3, having been found expressing differently in liver tissues in our previous work, including eRF3a and eRF3b, which are structural homologs named GSPT1 and GSPT2. Recent studies have indicated that eRF3b involved in the development and proliferation of HepG2 cell, and eRF3a may be associated with tumor susceptibility. Based on this, we tested the effects of GSPT1 and GSPT2 single-nucleotide polymorphisms for all major Hepatitis B virus (HBV) outcomes and lamivudine (LAM) treatment in Han Chinese. Method. A total of 1649 samples were enrolled, and peripheral blood samples were collected in the present study. The single-nucleotide polymorphisms in the GSPT1 and GSPT2 region were genotyped using MALDI-TOF MS. Results. Our study demonstrated there was no obvious relevance of either GSPT1-rs33635 or GSPT2-rs974285 polymorphisms with HBV susceptibility, spontaneous recovery, and development of HBV-related diseases. However, we showed for the first time to our knowledge that GSPT1-rs33635C was a predictor for LAM therapy (viral response: odds ratio (OR) = 2.436, P=0.022; biochemical response: OR = 3.328, P=1.73 × 10−4). Conclusions. These findings might provide potential implications for therapeutic guidance.

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Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis

International Journal of Colorectal Disease ◽

10.1007/s00384-019-03473-1 ◽

2019 ◽

Vol 35 (2) ◽

pp. 277-284

Author(s):

Jan Dimberg ◽

Marie Rubér ◽

Marita Skarstedt ◽

Manne Andersson ◽

Roland E. Andersson

Keyword(s):

Inflammatory Response ◽

Diagnostic Value ◽

Inverse Association ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Etiologic Role ◽

Genetic Mechanisms ◽

Stratified Analysis ◽

And Control

Abstract Purpose The pathogenesis of appendicitis is not well understood. Environmental factors are regarded most important, but epidemiologic findings suggest a role of inflammatory and genetic mechanisms. This study determines the association of single nucleotide polymorphisms (SNPs) of inflammatory genes with appendicitis. Methods As part of a larger prospective study on the diagnostic value of inflammatory variables in appendicitis, the genotype frequency of 28 polymorphisms in 26 inflammatory response genes from the appendicitis and control patients was analyzed in blood samples from 343 patients, 100 with appendicitis, and 243 with non-specific abdominal pain, using TaqMan SNP genotyping assays. Results Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52–23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24–4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02–0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243. Stratified analysis showed difference in association with severity of disease for IL-17 rs2275913 and CD44 rs187115. Conclusions The association of gene variants on risk of appendicitis and its severity suggest an etiologic role of genetically regulated inflammatory response. This may have implications for understanding the prognosis of untreated appendicitis as a possible self-limiting disorder and for understanding the inverse association of appendicitis with ulcerative colitis.

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Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

BMC Medical Genetics ◽

10.1186/s12881-019-0888-6 ◽

2019 ◽

Vol 20 (1) ◽

Author(s):

Yuan Wu ◽

Junjie Zhao ◽

Yonglin Zhao ◽

Tingqin Huang ◽

Xudong Ma ◽

...

Keyword(s):

Ischemic Stroke ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Increased Risk ◽

Chi Squared ◽

Cytochrome P450 Family ◽

Stratified Analysis ◽

Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

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