Five MDM4 gene polymorphisms on cancer risk: An updated systematic review and meta-analysis

2021 ◽  
Vol 36 (2) ◽  
pp. 172460082110338
Author(s):  
Yaxuan Wang ◽  
Zhan Yang ◽  
Xueliang Chang ◽  
Jingdong Li ◽  
Zhenwei Han

Purpose The study aims to provide a comprehensive account of the association of five MDM4 gene polymorphisms (rs1380576, rs1563828, rs10900598, rs11801299, and rs4245739) with susceptibility to cancer. Methods A literature search for eligible candidate gene studies published before 27 February 2021 was conducted in PubMed, Medline and Web of Science. The following combinations of main keywords were used: (MDM4 OR MDMX OR HDMX OR mouse double minute 4 homolog) AND (polymorphism OR mutation OR variation OR SNP OR genotype) AND (cancer OR tumor OR neoplasm OR malignancy OR carcinoma OR adenocarcinoma). Potential sources of heterogeneity were sought out via meta-regression, subgroup and sensitivity analysis. Results Overall, a total of 15 articles with 21,365 cases and 29,280 controls for five polymorphisms of the MDM4 gene were enrolled. In the stratified analysis of rs1380576, we found that Asians might have less susceptibility to cancer. We found that rs4245739 was correlated with a decreased risk of cancer for Asians and breast cancer susceptibility. However, for other polymorphisms, the results showed no significant association with cancer risk. Conclusion MDM4 rs1380576 polymorphism is negatively associated with the risk of cancer in the Asian population. MDM4 rs4245739 polymorphism is inversely associated with cancer risk for Asians and breast cancer susceptibility.

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Jingdong Li ◽  
Yaxuan Wang ◽  
Xueliang Chang ◽  
Zhenwei Han

Abstract Purpose: To provide a comprehensive account of the association of five Lymphotoxin-α (LTA) gene polymorphisms (rs1041981, rs2229094, rs2239704, rs746868, rs909253) with susceptibility to cancer. Methods: A literature search for eligible candidate gene studies published before 28 February 2020 was conducted in the PubMed, Medline, Google Scholar and Web of Science. The following combinations of main keywords were used: (LTA OR Lymphotoxin alpha OR TNF-β OR tumor necrosis factor-beta) AND (polymorphism OR mutation OR variation OR SNP OR genotype) AND (cancer OR tumor OR neoplasm OR malignancy OR carcinoma OR adenocarcinoma). Potential sources of heterogeneity were sought out via subgroup and sensitivity analysis, and publication bias were estimated. Results: Overall, a total of 24 articles with 24577 cases and 33351 controls for five polymorphisms of LTA gene were enrolled. We identified that rs2239704 was associated with a reduced risk of cancer. While for other polymorphisms, the results showed no significant association with cancer risk. In the stratified analysis of rs1041981, we found that Asians might have less susceptibility to cancer. At the same time, we found that rs2239704 was negatively correlated with non-Hodgkin lymphoma (NHL). While, for rs909253, an increased risk of cancer for Caucasians and HCC susceptibility were uncovered in the stratified analysis of by ethnicity and cancer type. Conclusion: LTA rs2239704 polymorphism is inversely associated with the risk of cancer. LTA rs1041981 polymorphism is negatively associated with cancer risk in Asia. While, LTA rs909253 polymorphism is a risk factor for HCC in Caucasian population.


MicroRNA ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Abdolkarim Moazeni-Roodi ◽  
Sajjad Aftabi ◽  
Sahel Sarabandi ◽  
Shima Karami ◽  
Mohammad Hashemi ◽  
...  

Background: Several studies have reported a possible association of the miR-146a rs2910164 polymorphism with Breast Cancer (BC) development. However, the correlation between this polymorphism and susceptibility to BC is under debate. The current meta-analysis was designed and performed to more conclusively evaluate the miR-146a rs2910164 polymorphism and its potential link to BC. Methods: Our team has selected eligible studies (published up to October 2, 2020) from several electronic databases, including Web of Science, PubMed, Scopus and Google Scholar. A total number of 9,545 BC cases and 10,030 controls extracted from 26 eligible articles were included in this study. We utilized pooled Odds Ratios (ORs) as well as 95% confidence intervals (95% CIs) under five genetic models for quantitative estimation of any possible association between miR-146a rs2910164 polymorphism and BC. Results: Based on this meta-analysis, our findings suggest that there is no significant association between miR-146a rs2910164 polymorphism and BC risk. However, stratified analysis revealed that the rs2910164 polymorphism significantly increased the risk of BC in hospital-based studies using the homozygous genetic model (OR=1.37, 95%CI=1.01-1.86, p=0.043, CC vs. GG). Neither Asian nor Caucasian populations showed any significant association between rs2910164 polymorphism and BC susceptibility. Conclusion: In summary, our findings suggest that BC development is not associated with miR-146a rs2910164 polymorphism. However, larger ingenious future investigations might be needed for a more precise estimation of any association between miR-146a rs2910164 polymorphism and BC.


PeerJ ◽  
2017 ◽  
Vol 5 ◽  
pp. e2815 ◽  
Author(s):  
Zhiming Dai ◽  
Tian Tian ◽  
Meng Wang ◽  
Xinghan Liu ◽  
Shuai Lin ◽  
...  

Previous studies have investigated the association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphisms and breast cancer susceptibility, but the results remained inconsistent. Therefore, we evaluated the relationship between four common CTLA-4 polymorphisms and breast cancer risk by a meta-analysis, aiming to derive a comprehensive and precise conclusion. We searched EMBASE, Pubmed, Web of Science, CNKI, and Wanfang databases until July 18th, 2016. Finally, ten eligible studies involving 4,544 breast cancer patients and 4,515 cancer-free controls were included; all these studies were from Asia. Odds ratio (OR) and 95% confidence interval (CI) were used to evaluate the breast cancer risk in five genetic models. The results indicated that the CTLA-4 +49A>G (rs231775) polymorphism had a significant association with decreased breast cancer risk in allelic, homozygous, dominant and recessive models. Also, the +6230G>A (rs3087243) polymorphism reduced breast cancer risk especially in the Chinese population under homozygous and recessive models. In contrast, the −1661A>G (rs4553808) polymorphism increased breast cancer risk in allelic, heterozygous and dominant models, whereas −1722 T>C (rs733618) did not relate to breast cancer risk. In conclusion, CTLA-4 polymorphisms significantly associate with breast cancer susceptibility in Asian populations, and different gene loci may have different effects on breast cancer development. Further large-scale studies including multi-racial populations are required to confirm our findings.


Author(s):  
Pham Thi Huyen ◽  
Tran Thi Thuy Anh ◽  
Nguyen Thi Hong Van

The CYP19A1 gene encodes for aromatase P450, which is a key enzyme in estrogen metabolism, catalyzes the conversation of testosterone to estradiol and androstenedione to estrone. It is generally believed that polymorphisms in genes coding for key enzymes involved in these pathways could effect to the activity of enzymes, which can change the level of endogenous hormones. Therefore genetic polymorphisms in hormone-related genes could increase the breast cancer susceptibility.  In this study, 60 blood samples of breast cancer women and 50 control populations were analyzed to identify the genotype frequency at SNP loci rs10046 C>T and rs2236722 Trp39Arg (T>C) on CYP19A1 using PCR-RFLP and PCR-CTPP respectively. The data were analyzed to determine the association between these polymorphism loci and susceptibility to breast cancer. The result showed that, the genotype frequencies at SNP rs10046 in the control as: CC (14%), CT (48%), TT (38%), in case group are CC (18.33%) , CT (58.33%) and TT (23.34%); at SNP rs2236722 in the control group: TT (94%), TC (6%), in case group TT (90%), TC (10%). The OR analyses for the gene carrying the CC and TC genotypes compared with TT genotype at both loci (OR=2.01; 95% CI=0.87–4.67 with rs10046 and OR = 1.74; 95% CI= 0.40 – 7.42 with rs2236722) indicated that these SNP loci in CYP19A1 have no effect on breast cancer susceptibility. Keywords Breast cancer, SNP, rs10046, rs2236722, CYP19A1 gene References 1. Bora M. T., Tülin Ö., Halil I. K., Sennur I., Calay Z., Oğuz Ö., Turgay I. (2010), “CYP17 (T-34C) and CYP19 (Trp39Arg) Polymorphisms and their Cooperative Effects on Breast Cancer Susceptibility”, In vivo, 24, pp.71–74.2. Chen C., Sakoda L. C., Doherty J. A., Loomis M. M., Fish S., Ray R. M. (2008), “Genetic variation in CYP19A1 and risk of breast cancer and brocystic breast conditions among women in Shanghai, China”, Cancer Epidemiology Biomarkers Prevention, 17(12), pp.3457–3466.3. Dunning A. M., Dowsett M., Healey C. S., Tee L., Luben R. N., Folkerd E., Novik K. L., Kelemen L., Ogata S., Pharoah P. D., Easton D. F., Day N. E., Ponder B. A. (2004), “Polymorphisms associated with circulating sex hormone levels in postmenopausal women”, J. Natl. Cancer Inst., 96(12), pp.936–945.4. Farzaneh F., Noghabaei G., Barouti E., Pouresmaili F., Jamshidi J., Fazeli A. (2016), “Analysis of CYP17, CYP19 and CYP1A1 gene polymorphisms in Iranian women with breast cancer”, Asian Pacific Journal of Cancer Prevention, 17, pp.23–26.5. Ghisari M., Eiberg H., Long M. (2014), “Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: A case-control study in Inuit women”, Environmental Health, 13(1), pp.19.6. Henderson B. E., Ross R., Bernstein L. (1988), “Estrogens as a cause of human cancer: The Richard and Hinda Rosenthal Foundation award lecture”, Cancer Research, 48, pp.246–253.7. Hirose K., Matsuo K., Toyama T. (2004), “The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausal Japanese”, Cancer Epidemiol BiomarkPrev, 13, pp.1407–1411.8. Kristensen V. N., Harada N., Yoshimura N., Haraldsen E., Lonning P. E. (2000), “Genetic variants of CYP19 (aromatase) and breast cancer risk”, Oncogene, 19, pp.1329–1333.9. Lunardi G., Piccioli P., Bruzzi P., Notaro R., Lastraioli S., Serra M. (2013), “Plasma estrone sulfate concentrations and genetic variation at the CYP19A1 locus in postmenopausal women with early breast cancer treated with letrozole”, Breast Cancer Research and Treatment, 137(1), pp.167–174.10. Miyoshi Y., Iwao K., Ikeda N., Egawa C., Noguchi S., (2000), “Breast cancer risk associated with polymorphism in CYP19 in Japanese women”, Int J Cancer, 89, pp.325–328. 11. Pineda B., García-Pérez M.Á., Cano A., Lluch A., Eroles P. (2013), “Associations between Aromatase CYP19 rs10046 Polymorphism and Breast Cancer Risk: From a Case–Control to a Meta–Analysis of 20.098 Subjects”, PLos One, 8(1), pp.1–9.12. Ralph D. A., Zhao L. P., Aston C. E., Manjeshwar S., Pugh T. W. (2007), “Age-specific association of steroid hormone pathway gene polymorphisms with breast cancer risk”, Cancer, 109, pp.1940–1948.13. Samson M., Rama R., Swaminathan R., Sridevi V., Nancy K. N., Rajkumar T., (2009), “CYP17 (T-34C), CYP19 (Trp39Arg), and FGFR2 (C-906T) polymorphisms and the risk of breast cancer in South Indian women”, Asian Pacific J Cancer Prev, 10, pp.111–116.14. Yang L., Wang X. Y., Li Y. T., Wang H. L., Wu T., Wang B. (2015), “CYP19 gene polymorphisms and the susceptibility to breast cancer in Xinjiang Uigur women”, Genetics and Molecular Research, 14(3), pp.8473–8482.15. Yoshimoto N., Nishiyama T., Toyama T., Takahashi S., Shiraki N., Sugiura H., (2011), “Genetic and environmental predictors, endogenous hormones and growth factors, and risk of estrogen receptor positive breast cancer in Japanese women”, Cancer Science, 102(11), pp.2065–2072.16. Zins K., Mogg M., Schneeberger C., Abraham D., (2014), “Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset of human breast cancer”, International Journal of Molecular Sciences, 15(1), pp.712–724.


2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Bingjie Li ◽  
Xiaoqing Shi ◽  
Yingying Yuan ◽  
Mengle Peng ◽  
Huifang Jin ◽  
...  

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.


2019 ◽  
Vol 2019 ◽  
pp. 1-14 ◽  
Author(s):  
Xiaolan Pan ◽  
Lei Huang ◽  
Meiqin Li ◽  
Dan Mo ◽  
Yihua Liang ◽  
...  

Q192R and L55M polymorphism were considered to be associated with the development of multiple cancers. Nevertheless, the results of these researches were inconclusive and controversial. Therefore, we conducted a meta-analysis of all eligible case-control studies to assess the association between PON1 (Q192R and L55M) gene polymorphisms and risk of cancer. With the STATA 14.0 software, we evaluated the strength of the association by using the odds ratios (ORs) and 95% confidence intervals (CIs). A total of 43 case-control publications 19887 cases and 23842 controls were employed in our study. In all genetic models, a significant association between PON1-L55M polymorphisms and overall cancer risk was observed. Moreover, in the stratified analyses by cancer type, polymorphism of PON1-L55M played a risk factor in the occurrence of breast cancer, hematologic cancer, and prostate cancer. Similarly, an increased risk was observed in the Caucasian and Asian population as well as hospital-based group and population-based group. For PON1-Q192R polymorphisms, in the stratified analyses by cancer type, PON1-Q192R allele was associated with reduced cancer risks in breast cancer. Furthermore, for racial stratification, there was a reduced risk of cancer in recession model in Caucasian population. Similarly, in the stratification analysis of control source, the overall risk of cancer was reduced in the heterozygote comparison and dominant model in the population-based group. In conclusion, PON1-Q192R allele decreased the cancer risk especially breast cancer; there was an association between PON1-L55M allele and increased overall cancer risk. However, we need a larger sample size, well-designed in future and at protein levels to confirm these findings.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Weiqing Liu ◽  
Shumin Ma ◽  
Lei Liang ◽  
Zhiyong Kou ◽  
Hongbin Zhang ◽  
...  

Abstract Background Studies on the XRCC3 rs1799794 polymorphism show that this polymorphism is involved in a variety of cancers, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was to investigate the association between rs1799794 polymorphism and susceptibility to cancer. Methods PubMed, Embase, the Cochrane Library, Web of Science, and Scopus were searched for eligible studies through June 11, 2019. All analyses were performed with Stata 14.0. Subgroup analyses were performed by cancer type, ethnicity, source of control, and detection method. A total of 37 studies with 23,537 cases and 30,649 controls were included in this meta-analysis. Results XRCC3 rs1799794 increased cancer risk in the dominant model and heterozygous model (GG + AG vs. AA: odds ratio [OR] = 1.04, 95% confidence interval [CI] = 1.00–1.08, P = 0.051; AG vs. AA: OR = 1.05, 95% CI = 1.00–1.01, P = 0.015). The existence of rs1799794 increased the risk of breast cancer and thyroid cancer, but reduced the risk of ovarian cancer. In addition, rs1799794 increased the risk of cancer in the Caucasian population. Conclusion This meta-analysis confirms that XRCC3 rs1799794 is related to cancer risk, especially increased risk for breast cancer and thyroid cancer and reduced risk for ovarian cancer. However, well-designed large-scale studies are required to further evaluate the results.


2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Saeid Ghavami ◽  
Mohsen Taheri ◽  
Mohammad Hashemi

Objectives: Several studies have reported a correlation between the POLR2E rs3787016 polymorphism and cancer development, but findings are inconsistent. Therefore, we designed the current study to understand how rs3787016 polymorphism impacts cancer susceptibility. Methods: We searched the Scopus, Web of Science, and PubMed databases for studies related to the topic of interest published up to March 2019. A total of 11 relevant studies, encompassing 8,761 cancer cases and 10,534 controls, were retrieved and subject to quantitative analysis. The strength of the relationship was evaluated using the pooled odds ratios (ORs) with 95% confidence intervals (CIs). Results: Overall, the findings proposed a positive association between rs189037 polymorphism and susceptibility to cancer in homozygous (OR = 1.32, 95% CI = 1.11 - 1.57, P = 0.002, TT vs. CC), recessive (OR = 1.21, 95% CI = 1.06-1.39, P = 0.005, TT vs. CT + CC), and allele (OR = 1.12, 95% CI = 1.02-1.22, P = 0.021, T vs. C) genetic models. Stratified analysis showed that rs3787016 increased the risk of prostate and breast cancer. In addition, we found a significant association between the variant and increased cancer risk in Asian and Caucasian populations. Conclusions: In summary, the findings of the current meta-analysis suggest that the POLR2E rs3787016 polymorphism is an indicator of cancer susceptibility.


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