scholarly journals Association of interleukin 10 rs1800896 polymorphism with susceptibility to breast cancer: a meta-analysis

2020 ◽  
Vol 48 (4) ◽  
pp. 030006052090486 ◽  
Author(s):  
ZiYin Zhu ◽  
Ji-Bin Liu ◽  
Xi Liu ◽  
LinXue Qian

Objective To evaluate the correlation between interleukin 10 (IL-10) −1082A/G polymorphism (rs1800896) and breast cancers by performing a meta-analysis. Methods The Embase and Medline databases were searched through 1 September 2018 to identify qualified articles. Odds ratios (OR) and corresponding 95% confidence intervals (CIs) were applied to evaluate associations. Results In total, 14 case-control studies, including 5320 cases and 5727 controls, were analyzed. We detected significant associations between the IL10 −1082 G/G genotype and risk of breast cancer (AA + AG vs. GG: OR = 0.88, 95% CI = 0.80–0.97). Subgroup analyses confirmed a significant association in Caucasian populations (OR = 0.89, 95% CI = 0.80–0.99), in population-based case-control studies (OR = 0.87, 95% CI = 0.78–0.96), and in studies with ≥500 subjects (OR = 0.88, 95% CI = 0.79–0.99) under the recessive model (AA + AG vs. GG). No associations were found in Asian populations. Conclusions The IL10 −1082A/G polymorphism is associated with an increased risk of breast cancer. The association between IL10 −1082 G/G genotype and increased risk of breast cancer is more significant in Caucasians, in population-based studies, and in larger studies.

2020 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  

Abstract Background. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53 gene. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods. We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy appearing Malian women using PCR. In addition, we performed a meta-analysis of data from case-control studies published in articles retrieved from international databases (Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science). Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.Results. In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion. The Malian case-control study suggests that PIN3 16-bp polymorphism duplication of TP53 gene is an important risk factor for breast cancer in Malian women. These findings are supported by the meta-analysis of studies from different ethnicities.


2019 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  

Abstract Background Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53 gene. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy appearing Malian women using PCR. In addition, we performed a meta-analysis of data from case-control studies published in articles retrieved from international databases (Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science). Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.ResultsIn the Malian patients studied here, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not the recessive model ( P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model ( P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion The Malian case-control study suggests that PIN3 16-bp polymorphism duplication of TP53 gene is an important risk factor for breast cancer in Malian women. These data are supported by the meta-analysis of broader ethnic and population groups.


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.


Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1378
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein-truncating variant CHEK2 c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. We conducted a population-based case-control-family study of pathogenic CHEK2 variants (26 families, 1071 relatives) and estimated the age-specific cumulative risk of breast cancer using segregation analysis. The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5–9.5) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02–11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5–12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11–30%) and 33% (95% CI 21–48%) to age 60 and 80 years, respectively. These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.


Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5654
Author(s):  
Agnieszka Barańska ◽  
Agata Błaszczuk ◽  
Wiesław Kanadys ◽  
Maria Malm ◽  
Katarzyna Drop ◽  
...  

To perform a meta-analysis of case-control studies that addressed the association between oral contraceptive pills (OC) use and breast cancer (BrCa), PubMED (MEDLINE), Embase, and the Cochrane Library were searched to identify case-control studies of OC and BrCa published between 2009 and 2020. We used the DerSimonian–Laird method to compute pooled odds ratios (ORs) and confidence intervals (CIs), and the Mantel–Haenszel test to assess the association between OC use and cancer. Forty-two studies were identified that met the inclusion criteria and we included a total of 110,580 women (30,778 into the BrCa group and 79,802 into the control group, of which 15,722 and 38,334 were using OC, respectively). The conducted meta-analysis showed that the use of OC was associated with a significantly increased risk of BrCa in general, OR = 1.15, 95% CI: 1.01 to 1.31, p = 0.0358. Regarding other risk factors for BrCa, we found that increased risk was associated significantly with early menarche, nulliparous, non-breastfeeding, older age at first parity, postmenopause, obesity, smoking, and family history of BrCa. Despite our conclusion that birth control pills increase the cancer risk being supported by extensive previous studies and meta-analyzes, further confirmation is required.


BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Danyal Imani ◽  
Bahman Razi ◽  
Morteza Motallebnezhad ◽  
Ramazan Rezaei

Abstract Background The association between the Vitamin D Receptor (VDR) gene polymorphism and the risk of Multiple sclerosis (MS) has been evaluated in several researches. However, the findings were inconsistent and inconclusive. Therefore, we set out a meta-analysis of all eligible published case-control studies to obtain an exact evaluation of the association between VDR gene polymorphisms and MS. Method All relevant studies reporting the association between the VDR gene FokI (rs2228570), or/and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232) polymorphisms and susceptibility to MS published up to May, 2019 were identified by comprehensive systematic search in the electronic database of web of science, Scopus, and PubMed. After that, the strength of association between VDR gene polymorphisms and susceptibility to MS was evaluated by odds ratio (OR) and 95% confidence interval (CI). Results A total of 30 case–control studies were included in the meta-analysis. The overall results suggested a significant association between TaqI polymorphism and MS risk under heterozygote genetic model (OR = 1.27, 95%CI = 1.01–1.59, random effect). Moreover, the pooled results of subgroup analysis declined presence of significant association under all defined genetic model. In subgroup analysis, BsmI polymorphisms was associated with increased risk of MS under recessive model in Asian populations. On the other hand, ApaI polymorphism was associated with decreased risk of MS under recessive and aa vs. AA model in Asian populations. Conclusion This meta-analysis suggested a significant association between TaqI polymorphism and MS susceptibility. Furthermore, BsmI polymorphism was associated with increased risk of MS in Asian populations. In contrast, ApaI polymorphism was associated with decreased risk of MS in Asian populations. Future large-scale studies on gene–environment and gene–gene interactions are required to estimate risk factors and assist early diagnosis of patients at high risk for MS.


2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Yuanzhou He ◽  
Shuang Peng ◽  
Weining Xiong ◽  
Yongjian Xu ◽  
Jin Liu

Background. Asthma is a complex polygenic disease in which gene-environment interactions are important. A number of studies have investigated the polymorphism of IL-1β-511C/T and IL-1RA genes in relation to asthma susceptibility in different populations. However, the results of individual studies have been inconsistent. Accordingly, we conducted a comprehensive meta-analysis to investigate the association between the IL-1β-511C/T and IL-1RA polymorphism and asthma risk.Methods. Data were collected from the following electronic databases: Pub Med, China National Knowledge Infrastructure (CNKI), Chinese Biomedical Literature Database (CBM), ISI Web of Knowledge, and Google Scholar Search databases with the last report up to July 2013. Finally, 15 studies were included in our meta-analysis. We summarized the data on the association between IL-1β-511C/T and IL-1RA polymorphism and risk of asthma in the overall population and performed subgroup analyses by ethnicity, mean of age, and source of controls. Odds ratio (OR) and 95% confidence interval (CI) were used to evaluate the associations between IL-1β-511C/T and IL-1RA polymorphism and asthma risk. Statistical analysis was performed with Review Manager 5.1.Results. A total of 15 case-control studies were included in the meta-analysis of IL-1β-511C/T (1,385 cases and 1,964 controls) and IL-1RA (2,800 cases and 6,359 controls) genotypes. No association was found between IL-1β-511C/T polymorphism and asthma risk (dominant model:OR=1.11, 95% CI: 0.99–1.25,P=0.07,PHeterogeneity=0.06; recessive model:OR=1.04, 95% CI: 0.91–1.20,P=0.55,PHeterogeneity=0.11). Subgroup analysis based on ethnicity (Asian and Caucasian), source of controls (population-based controls and hospital-based controls), and mean of age (adulthood and childhood) did not present any significant association. The overall results showed that the IL-1RA polymorphism was related to an increased risk of asthma (homozygote model:OR=1.32, 95% CI: 1.12–1.56,P=0.0009,PHeterogeneity=0.87; recessive model:OR=1.39, 95% CI: 1.18–1.63,P=0.0001,PHeterogeneity=0.82). Similar results were found in the subgroup analyses by ethnicity, mean of age, and source of controls. Sensitivity analysis did not perturb the results.Conclusions. This meta-analysis provided strong evidence that the IL-1RA polymorphism was a risk factor of asthma, especially in Caucasian populations. However, no association was found for IL-1β-511C/T genotype carriers. Larger scale studies are needed for confirmation.


BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Masoumeh Moslemi ◽  
Yousef Moradi ◽  
Hojat Dehghanbanadaki ◽  
Hamed Afkhami ◽  
Mansoor Khaledi ◽  
...  

Abstract Background Ataxia telangiectasia-mutated (ATM) gene contributes to repair damaged DNA and to regulate cell cycle; therefore, ATM variants seem to increase breast cancer risk; however, the results are controversial. So we conducted a systematic review and meta-analysis to clarify the pooled association between various ATM variants and the risk of breast cancer. Methods The relevant studies were searched through Scopus, Web of Science, PubMed and Cochrane. Stratified and subgroup analyses were performed to explore heterogeneity between studies and assess effects of study quality. The pooled estimates logarithm with standard error logarithm of odds ratio and relative risk with confidence interval were calculated. Results This study revealed that there is association between ATM variants and the risk of breast cancer; according to the seven adjusted case-control studies, OR of this association was estimated as 1.67 (95%CI: 0.73–3.82), according to nine unadjusted case-control studies, the crude OR was 2.27 (95% CI: 1.17–4.40) and according to two cohorts, the RR was estimated as 1.68 (95% CI: 1.17–2.40). Conclusions The ATM variants are associated with an increased risk of breast cancer that ATM V2424G mutation is detected as the most predisposing factor while ATM D1853V, L546V, and S707P variants have the least predictive ability.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 551-551
Author(s):  
Tu Nguyen-Dumont ◽  
James Dowty ◽  
Jason A Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  

551 Background: Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein truncating variant CHEK2c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. Methods: We conducted a genetic screen of CHEK2 in an Australian population-based case-control-family study of breast cancer. This study is focused on disease at an early age and participants were unselected for family history. The age-specific cumulative risk (penetrance) of breast cancer was estimated using segregation analysis. Results: The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5-9.5; p < 0.0001) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02-11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5-12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11-30%) and 33% (95% CI 21-48%) to age 60 and 80 years, respectively. Conclusions: These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.


2018 ◽  
Vol 64 (8) ◽  
pp. 756-764 ◽  
Author(s):  
Mostafa Abedinzadeh ◽  
Hossein Neamatzadeh ◽  
Mohammadali Jafari ◽  
Mohammad Forat-Yazdi ◽  
Rezvan Nasiri ◽  
...  

SUMMARY INTRODUCTION The association between the between IL-10 -1082A>G (rs1800896) polymorphism and breast cancer has been evaluated by several number case-control studies. However, these studies might be underpowered to reveal the true association. OBJECTIVE We have performed a comprehensive meta-analysis to investigate the association IL-10 -1082A>G polymorphism and breast cancer. MATERIALS AND METHODS A systematic literature search was conducted using PubMed, Google Scholar, and Web of Science up to September 20, 2017. Data was analysed with CMA software to identify the strength of the association by pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs). RESULTS A total of 17 case-control studies involving 3275 cases and 3416 controls obtained from database searches were examined. Overall, there was no significant association between IL-10 -1082A>G polymorphism and breast cancer risk under all genetic models. No significant publication bias was found for the five genetic models (G vs. A OR = 1.184, 95% CI = 0.895-1.180, p= 0.230; GG vs. AA: OR = 1.430, 95% CI = 0.927-2.204, p= 0.106; GA vs. AA: OR = 0.966, 95% CI = 0.765-1.221, p= 0.774; GG+GA vs. AA: OR = 0.957, 95% CI = 0.697-1.314, p= 0.786; and GG vs. GA+AA: OR = 1.221, 95% CI = 0.981-1.518, p= 0.073). Moreover, there was no significant association between the IL-10 -1082A>G polymorphism and breast cancer risk by ethnicity. CONCLUSION Our findings indicated that IL-10 -1082A>G (rs1800896) polymorphism might not be a risk factor for the development of breast cancer.


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