New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies

Abstract Background Numerous studies have reported the correlation between AXIN2 polymorphism and cancer risk, but the results seem not consistent. In order to get an overall, accurate and updated results about AXIN2 polymorphism and cancer risk, we conducted this study. Methods An updated analysis was performed to analyze the correlation between AXIN2 polymorphisms and cancer risk. Linkage disequilibrium (LD) analysis was also used to show the associations. Results Seventy-two case-control studies were involved in the study, including 22,087 cases and 18,846 controls. The overall results showed rs11079571 had significant association with cancer risk (allele contrast model: OR = 0.539, 95%CI = 0.478–0.609, PAdjust = 0.025; homozygote model: OR = 0.22, 95% CI = 0.164–0.295, PAdjust< 0.001; heterozygote model: OR = 0.292, 95% CI = 0.216–0.394, PAdjust< 0.001; dominant model: OR = 0.249, 95% CI = 0.189–0.33, PAdjust< 0.001). The same results were obtained with rs1133683 in homozygote and recessive models (PAdjust< 0.05), and in rs35285779 in heterozygote and dominant models (PAdjust< 0.05). LD analysis revealed significant correlation between rs7210356 and rs9915936 in the populations of CEU, CHB&CHS, ESN and JPT (CEU: r2 = 0.91; CHB&CHS: r2 = 0.74; ESN: r2 = 0.62, JPT: r2 = 0.57), and a significant correlation between rs9915936 and rs7224837 in the populations of CHB&CHS, ESN and JPT (r2>0.5), between rs7224837 and rs7210356 in the populations of CEU, CHB&CHS, JPT (r2>0.5), between rs35435678 and rs35285779 in the populations of CEU, CHB&CHS and JPT (r2>0.5). Conclusions AXIN2 rs11079571, rs1133683 and rs35285779 polymorphisms have significant correlations with overall cancer risk. What’s more, two or more polymorphisms such as rs7210356 and rs9915936, rs9915936 and rs7224837, rs7224837 and rs7210356, rs35435678 and rs35285779 have significant correlation with cancer susceptibility in different populations.

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Evaluation of gene-environment interactions for colorectal cancer susceptibility loci using case-only and case-control designs

BMC Cancer ◽

10.1186/s12885-019-6456-9 ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Nan Song ◽

Jeeyoo Lee ◽

Sooyoung Cho ◽

Jeongseon Kim ◽

Jae Hwan Oh ◽

...

Keyword(s):

Colorectal Cancer ◽

Cancer Risk ◽

Protective Factors ◽

Risk Allele ◽

Cancer Susceptibility ◽

Case Control ◽

Regular Exercise ◽

Susceptibility Loci ◽

Gene Environment ◽

Regular Aspirin

Abstract Background Genome-wide association studies (GWAS) have identified more than 40 colorectal cancer susceptibility loci, but only a small fraction of heritability was explained. To account for missing heritability, we investigated gene-environment interactions (G × Es) between GWAS-identified single-nucleotide polymorphisms (SNPs) and established risk or protective factors for colorectal cancer using both case-only and case-control study designs. Methods Data on 703 colorectal cancer cases and 1406 healthy controls from the National Cancer Center in Korea were used. We tested interactions between 31 GWAS-identified SNPs and 13 established risk or protective factors for colorectal cancer (family history, body mass index, history of colorectal polyps, inflammatory bowel disease, and diabetes mellitus, alcohol drinking, smoking, regular exercise, regular aspirin use, postmenopausal hormone replace therapy, red meat and processed meat intake, and dairy consumption). Logistic regression models were used to assess G × Es for colorectal cancer risk. Results The SNP rs4444235 at 14q22.2 interacted with regular exercise in colorectal cancer (pcase-only = 2.4 × 10− 3, pcase-control = 1.5 × 10− 3). The risk allele (C) of rs4444235 increased the risk of colorectal cancer in regularly exercising individuals (OR = 1.47, 95% CI = 1.02–2.10) but decreased the risk in non-exercising individuals (OR = 0.76, 95% CI = 0.62–0.94). Furthermore, the G × E between the SNP rs2423279 at 20p12.3 and regular aspirin use was statistically significant (pcase-only = 7.7 × 10− 3, pcase-control = 1.6 × 10− 3). The additive effect of the risk allele (T) of rs2423279 on colorectal cancer risk was increased among regular aspirin users (OR = 4.62, 95% CI = 1.97–10.80). Conclusion Our results suggest that SNP rs4444235 at 14q22.2 and SNP rs2423279 at 20p12.3 may interact with regular exercise and aspirin use in colorectal carcinogenesis.

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Association between PD-1 and PD-L1 Polymorphisms and the Risk of Cancer: A Meta-Analysis of Case-Control Studies

Cancers ◽

10.3390/cancers11081150 ◽

2019 ◽

Vol 11 (8) ◽

pp. 1150 ◽

Cited By ~ 11

Author(s):

Mohammad Hashemi ◽

Shima Karami ◽

Sahel Sarabandi ◽

Abdolkarim Moazeni-Roodi ◽

Andrzej Małecki ◽

...

Keyword(s):

Cell Death ◽

Cancer Risk ◽

Programmed Cell Death ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Case Control ◽

Case Control Studies ◽

Programmed Cell Death 1 ◽

Risk Of Cancer ◽

The Impact

A number of case-control studies regarding the association of the polymorphisms in the programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) genes with the risk of cancer have yielded inconsistent findings. Therefore, we have conducted a comprehensive, updated meta-analysis study to identify the impact of PD-1 and PD-L1 polymorphisms on overall cancer susceptibility. The findings revealed that PD-1 rs2227981 and rs11568821 polymorphisms significantly decreased the overall cancer risk (Odds Ratio (OR) = 0.82, 95% CI = 0.68–0.99, p = 0.04, TT vs. CT+CC; OR = 0.79, 95% CI = 0.67–0.94, p = 0.006, AG vs. GG, and OR = 0.82, 95% CI = 0.70–0.96, p = 0.020, AG+AA vs. GG, respectively), while PD-1 rs7421861 polymorphism significantly increased the risk of developing cancer (OR = 1.16, 95% CI = 1.02–1.33, p = 0.03, CT vs. TT). The PD-L1 rs4143815 variant significantly decreased the risk of cancer in homozygous (OR = 0.62, 95% CI = 0.41–0.94, p = 0.02), dominant (OR = 0.70, 95% CI = 0.50–0.97, p = 0.03), recessive (OR = 0.76, 95% CI = 0.60–0.96, p = 0.02), and allele (OR = 0.78, 95% CI = 0.63–0.96, p = 0.02) genetic models. No significant association between rs2227982, rs36084323, rs10204525, and rs2890658 polymorphisms and overall cancer risk has been found. In conclusions, the results of this meta-analysis have revealed an association between PD-1 rs2227981, rs11568821, rs7421861, as well as PD-L1 rs4143815 polymorphisms and overall cancer susceptibility.

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ASSOCIATION OF INTERLEUKIN-10 -1082 A/G (RS1800896) POLYMORPHISM WITH SUSCEPTIBILITY TO GASTRIC CANCER: META-ANALYSIS OF 6,101 CASES AND 8,557 CONTROLS

Arquivos de Gastroenterologia ◽

10.1590/s0004-2803.201800000-18 ◽

2018 ◽

Vol 55 (1) ◽

pp. 33-40 ◽

Cited By ~ 13

Author(s):

Abolfazl NAMAZI ◽

Mohammad FORAT-YAZDI ◽

Mohammadali JAFARI ◽

Soudabeh FARAHNAK ◽

Rezvan NASIRI ◽

...

Keyword(s):

Gastric Cancer ◽

Cancer Risk ◽

Web Of Science ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Interleukin 10 ◽

Dominant Model ◽

Gastric Cancer Risk ◽

Case Control Studies ◽

Allele Model

ABSTRACT BACKGROUND: The promoter -1082 A/G (rs1800896) polymorphism of Interleukin-10 (IL-10) gene have been widely reported and considered to have a significant role on gastric cancer risk, but the results are inconsistent. OBJECTIVE: To clarify the association, we conducted a meta-analysis to investigate the associations IL-10 -1082 A/G polymorphism with gastric cancer. METHODS: Eligible articles were identified by searching databases including PubMed, Web of Science, and Google Scholar up to August 03, 2017. Odds ratios (OR) with corresponding 95% confidence intervals (CIs) were used to assess the association. RESULTS: A total of 30 case-control studies with 6,101 cases and 8,557 controls were included in this meta-analysis. Overall, a significant association between IL-10 -1082 A/G polymorphism and gastric cancer risk was observed under the allele model (G vs A: OR=1.305, 95% CI=1.076-1.584; P=0.007), heterozygote model and (GA vs AA: OR=1.252, 95% CI=1.252-1.054; P=0.011) and dominant model (GG+GA vs AA: OR=1.264, 95% CI=1.053-1.516; P=0.012). In the subgroup analysis by ethnicity, increased gastric cancer risk were found in Asians under the allele model (G vs A: OR=1.520, 95% CI=1.172-1.973; P=0.002), homozygote model (GG+GA vs AA: OR=1.571, 95% CI=1.023-2.414; P= 0.039), heterozygote model (GA vs AA: OR=1.465, 95% CI=1.192-1.801; P≤0.001) and dominant model (GG+GA vs AA: OR=1.448, 95% CI=1.152-1.821; P=0.002), but not among Caucasian and Latinos populations. CONCLUSION: These results suggested that the IL-10 -1082 A/G (rs1800896) polymorphism might contribute to the gastric cancer susceptibility, especially among Asians.

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Does miR-618 rs2682818 variant affect cancer susceptibility? Evidence from 10 case–control studies

Bioscience Reports ◽

10.1042/bsr20190741 ◽

2019 ◽

Vol 39 (8) ◽

Cited By ~ 1

Author(s):

Xingliang Feng ◽

Dan Ji ◽

Chaozhao Liang ◽

Song Fan

Keyword(s):

Breast Cancer ◽

Cancer Risk ◽

Structure Prediction ◽

Genetic Model ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Case Control Studies ◽

Stem Loop ◽

Contrast Model ◽

Pooled Data

Abstract Piles of evidence have supported the relationship between miR-618 rs2682818 polymorphism and tumorigenesis, but the conclusion remains inconsistent. In the present study, we conducted a meta-analysis to sniff out the potential risk between miR-618 rs2682818 and overall cancers. Crude odds ratios (ORs) and 95% confidence intervals (CIs) analyzed by Z-test were employed to estimate the potential interrelation in five genetic models. We also prospected how the rs2682818 affects the second structure of miR-618. Finally, 10 independent studies meet the enrolled criteria, along with 4099 cancer cases and 5057 healthy controls. Overall, no exceeding interrelation was sniffed out in the pooled data among five inherited models, as well as stratified analyses. Whereas, the enhanced cancer risk of miR-618 rs2682818 variant stratified by breast cancer was revealed, in heterozygote genetic model (AC vs. CC: OR = 1.291, 95%CI = 1.012–1.648, P = 0.040) and dominant contrast model (AA + AC vs. CC: OR = 1.280, 95%CI = 1.009–1.623, P = 0.042). The second structure prediction result shown that the mutant A allele might change the first stem-loop of miR-618, and the free energy of it would turn from –39.1 to –35.1 kcal/mol. All in all, our meta-analysis had successfully chased down that miR-618 rs2682818 polymorphism is not linked with overall cancer risk, but in the dominant genotype of breast cancer.

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Association between apurinic/apyrimidinic endonuclease 1 rs1760944 T>G polymorphism and susceptibility of cancer: a meta-analysis involving 21764 subjects

Bioscience Reports ◽

10.1042/bsr20190866 ◽

2019 ◽

Vol 39 (12) ◽

Cited By ~ 1

Author(s):

Guowen Ding ◽

Yu Chen ◽

Huiwen Pan ◽

Hao Qiu ◽

Weifeng Tang ◽

...

Keyword(s):

Cancer Risk ◽

Publication Bias ◽

Protective Factor ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Pooled Analysis ◽

Case Control ◽

Current Evidence ◽

Case Control Studies ◽

Risk Of Cancer

Abstract Background: Previous case–control studies have suggested that apurinic/apyrimidinic endonuclease 1 (APE1) rs1760944 T>G polymorphism may be associated with cancer risk. Here, we carried out an updated meta-analysis to focus on the correlation between APE1 rs1760944 T>G locus and the risk of cancer. Methods: We used the crude odds ratios (ORs) with their 95% confidence intervals (CIs) to evaluate the possible relationship between the APE1 rs1760944 T>G polymorphism and cancer risk. Heterogeneity, publication bias and sensitivity analysis were also harnessed to check the potential bias of the present study. Results: Twenty-three independent studies involving 10166 cancer cases and 11598 controls were eligible for this pooled analysis. We found that APE1 rs1760944 T>G polymorphism decreased the risk of cancer in four genetic models (G vs. T: OR, 0.87; 95% CI, 0.83–0.92; P<0.001; GG vs. TT: OR, 0.77; 95% CI, 0.69–0.86; P<0.001; GG/TG vs. TT: OR, 0.83; 95% CI, 0.77–0.89, P<0.001 and GG vs. TT/TG: OR, 0.85; 95% CI, 0.80–0.92, P<0.001). Results of subgroup analyses also demonstrated that this single-nucleotide polymorphism (SNP) modified the risk among lung cancer, breast cancer, osteosarcoma, and Asians. Evidence of publication bias was found in the present study. When we treated the publication bias with ‘trim-and-fill’ method, the adjusted ORs and CIs were not significantly changed. Conclusion: In conclusion, current evidence highlights that the APE1 rs1760944 T>G polymorphism is a protective factor for cancer susceptibility. In the future, case–control studies with detailed risk factors are needed to confirm or refute our findings.

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Body Mass Index (BMI) is not a cancer risk factor for BRCA1/2 carriers: a Systematic Review and Meta-analysis of case-control studies

10.21203/rs.3.rs-337397/v1 ◽

2021 ◽

Author(s):

Mario Giuseppe Mirisola ◽

Antonio Galvano ◽

Valerio Gristina ◽

Maria La Mantia ◽

Sofia Cutaia ◽

...

Keyword(s):

Systematic Review ◽

Cancer Risk ◽

Cancer Susceptibility ◽

Menopausal Status ◽

Susceptibility Gene ◽

Case Control ◽

Cochrane Library ◽

Breast Cancer Susceptibility Gene ◽

Ovarian Cancer Risk ◽

Case Control Studies

Abstract Background Breast cancer susceptibility gene 1 and 2 (BRCA 1/2) pathogenic germline variants (gPV) are involved in an increased cumulative risk for cancers (above all breast and ovarian cancers). Overweight/obesity is a well-known systemic condition conferring higher cancer risk too. Methods We performed a systematic review collecting data on Medline, Scopus, and Cochrane-Library database until August 2020. We included four case-control studies (Fu et al, Bissonauth et al, Khachatryan et al, Nkondjoc et al) assessing the risk for cancer according to different BMI strata in BRCA-positive healthy individuals. Results Four studies for a total of 1148 patients evaluated breast and ovarian cancer risk in a healthy BRCA1/2 population. No other tumor histotypes risk has been observed within the selected population. Pooled results demonstrated that different BMI conditions (lower or upper 25 kg/m2) were not associated with increased cancer risk (OR 1.15, 95% CI 0.92–1.44 and OR 1.48, 95% CI 0.84–2.62 respectively). Additionally, no differences were reported according to menopausal status. Conclusion Despite the need for other prospective investigations in larger cohorts, our results suggest no BMI contribution in cancer risk in this special population, determining a new important point of view and a new potential field of investigation.

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Decreased TGFBR1 signaling and breast cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2013.31.15_suppl.1548 ◽

2013 ◽

Vol 31 (15_suppl) ◽

pp. 1548-1548

Author(s):

Clark Henegan ◽

Lakisha Moore-Smith ◽

Nengjun Yi ◽

Habibul Ahsan ◽

Alice S Whittemore ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Cancer Susceptibility ◽

Breast Cancer Susceptibility ◽

Case Control ◽

Migration And Invasion ◽

Tgf Beta ◽

Case Control Studies ◽

Meta Analyses

1548 Background: We previously identified TGFBR1*6A (rs11466445), a hypomorphic TGF-beta type 1 receptor variant that is associated with cancer risk, has impaired TGF-beta signaling capability, and enhances the migration and invasion of breast cancer cells (Cancer Res 2008, 68:1319). Two recent large meta-analyses of case control studies have found a significant association between TGFBR1*6A and risk of breast cancer (Mol Biol Rep 2010 37:3227; PLoS One 2012,7(8). Rs7034462 is a single nucleotide polymorphism (SNP) in a noncoding region more than 9 kilobases upstream of TGFBR1 exon 1, which has been shown to be associated with decreased TGFBR1 expression similar to TGFBR1*6A (J Exp Clin Cancer Res 2010, 29:57). In this study we tested the hypothesis that rs7034462 may be associated with breast cancer risk. Methods: rs7034462 was genotyped in DNA obtained from patients with breast cancer and their unaffected sisters recruited by the Breast Cancer Family Registry (B-CFR). Results: The median age of cases and controls was 48.8 and 47.6 years, respectively. Using a simple case-control genetic association analysis for this family-matched population, rs7034462 was found to be associated with breast cancer risk. Conclusions: TGFBR1 rs7034462 is emerging as a low penetrance breast cancer susceptibility allele suggesting that two distinct TGFBR1 SNPs, each associated with decreased TGFBR1 expression, may modulate breast cancer risk. [Table: see text]

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Association between TP53 codon 72 G>C Polymorphism and Thyroid Carcinoma Risk: An Up-to-Date Meta-Analysis

Asian Pacific Journal of Cancer Biology ◽

10.31557/apjcb.2016.1.4.89-95 ◽

2016 ◽

Vol 1 (4) ◽

pp. 89-95

Author(s):

Jamal Jafari Nedooshan ◽

Mohammad Forat Yazdi ◽

Hossein Neamatzadeh ◽

Masoud Zare Shehneh ◽

Saeed Kargar ◽

...

Keyword(s):

Thyroid Cancer ◽

Cancer Risk ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Case Control ◽

Case Control Studies ◽

P53 Codon 72 ◽

Codon 72 ◽

Thyroid Cancer Risk ◽

Carcinoma Risk

Objective: Many published data on the association between p53 codon 72 G>C polymorphism and thyroid carcinoma risk showed inconclusive results. The aim this study was to assess the association between p53 codon 72 G>C polymorphism and thyroid cancer risk. Methods: A literature search of PubMed, EMBASE, Google scholar and Web of Science databases for case–control studies examining the association between p53 codon 72 G>C polymorphism and thyroid cancer susceptibility up October 2016 was performed. Odds ratios (OR) with 95 % confidence intervals (95 % CI) were used to assess the strength of the association. Results: A total of 12 case–control studies involving 2,062 thyroid cancer patients and 3,027 controls were included. There was a significant association between the p53 codon 72 G>C polymorphism and thyroid cancer susceptibility in the overall populations under homozygote (CC vs. GG: OR = 1.18, 95% CI 1.12-3.05, P = 0.01) and recessive model (CC vs. GC+GG: OR = 1.73, 95% CI 1.16-2.59, P = 0.007). Subgroup analysis by ethnicity showed that there was no significant association between p53 codon 72 G>C polymorphism and thyroid cancer risk in Caucasians, Asians and mixed Brazilian. No significant publication bias was observed by using Begg’s funnel plot and Egger’s test. Conclusion: Present meta-analysis indicated that the p53 codon 72 G>C polymorphism may be associated with thyroid cancer risk. However, more studies with large sample size are needed to further assess the associations.

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ERCC1 rs11615 polymorphism increases susceptibility to breast cancer: a meta-analysis of 4547 individuals

Bioscience Reports ◽

10.1042/bsr20180440 ◽

2018 ◽

Vol 38 (3) ◽

Cited By ~ 3

Author(s):

Bingjie Li ◽

Xiaoqing Shi ◽

Yingying Yuan ◽

Mengle Peng ◽

Huifang Jin ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Cancer Susceptibility ◽

Excision Repair ◽

Meta Analysis ◽

Asian Population ◽

Dominant Model ◽

Case Control Studies ◽

Increased Risk

Excision repair cross-complementation group 1 (ERCC1), a DNA repair protein, is vital for maintaining genomic fidelity and integrity. Despite the fact that a mounting body of case–control studies has concentrated on investigating the association of the ERCC1 rs11615 polymorphism and breast cancer risk, there is still no consensus on it. We conducted the current meta-analysis of all eligible articles to reach a much more explicit conclusion on this ambiguous association. A total of seven studies involving 2354 breast cancer cases and 2193 controls were elaborately selected for this analysis from the Embase, EBSCO, PubMed, WanFang, and China National Knowledge Infrastructure (CNKI) databases. Pooled odds ratios (ORs) and their 95% confidence intervals (CIs) were estimated in our meta-analysis. We found that the ERCC1 rs11615 polymorphism was significantly associated with breast cancer risk under all genetic models. When excluded, the studies that deviated from Hardy–Weinberg equilibrium (HWE), the pooled results of what remained significantly increase the risk of breast cancer under the allele model (OR = 1.14, 95% CI = 1.02–1.27, P=0.02), heterozygote model (OR = 1.24, 95% CI = 1.06–1.44, P=0.007), and dominant model (OR = 1.21, 95% CI = 1.05–1.41, P=0.01). This increased breast cancer risk was found in Asian population as well as under the heterozygote model (OR = 1.24, 95% CI = 1.05–1.48, P=0.013) and dominant model (OR = 1.20, 95% CI = 1.02–1.42, P=0.03). Our results suggest that the ERCC1 rs11615 polymorphism is associated with breast cancer susceptibility, and in particular, this increased risk of breast cancer existence in Asian population.

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Analysis of the Association of Matrix Metalloproteinase-1 Gene Promoter (rs1799750) Polymorphism and Risk of Ovarian Cancer

International Journal of Gynecological Cancer ◽

10.1097/igc.0000000000000463 ◽

2015 ◽

Vol 25 (6) ◽

pp. 961-967 ◽

Cited By ~ 3

Author(s):

Lijie Wang ◽

Beihua Kong

Keyword(s):

Ovarian Cancer ◽

Cancer Risk ◽

Matrix Metalloproteinase ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Gene Promoter ◽

Case Control ◽

Ovarian Cancer Risk ◽

Case Control Studies ◽

Matrix Metalloproteinase 1

ObjectiveStudies investigating the association betweenmatrix metalloproteinase-1(MMP1) gene promoter 1607–base pair (bp) polymorphism and ovarian cancer risk have yielded conflicting results.MethodsWe therefore carried out a meta-analysis of 754 ovarian cancer cases and 1184 controls from 5 published case-control studies. The strength of the association betweenMMP11607-bp polymorphism and ovarian cancer susceptibility was calculated using pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs).ResultsThe results suggest that no statistically significant associations exist betweenMMP11607-bp polymorphisms and ovarian cancer risk in all 4 genetic models (2G2G vs 1G1G: OR, 1.08; 95% CI, 0.81–1.43;P= 0.23; 1G2G vs 1G1G: OR, 1.06; 95% CI, 0.82–1.36;P= 0.15; 1G2G + 2G2G vs 1G1G: OR, 1.05; 95% CI, 0.83–1.34;P= 0.16; 2G2G vs 1G1G + 1G2G: OR, 0.98; 95% CI, 0.80–1.20;P= 0.84).ConclusionsIn summary, this meta-analysis showed that theMMP11607-bp polymorphism is not associated with ovarian cancer risk.

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