Dataset Information

Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.

ABSTRACT: BACKGROUND:Recently, unexpected autoimmune regulator (AIRE) implication in the scenario of several cancers, including breast cancer (BC), has emerged. This study aims to explore for the first time the possible association between AIRE gene rs2075876 G>A variant and BC risk in a sample of the Middle East population. METHOD:In this case-control study, we genotyped AIRE rs2075876 G>A variant in 200 unrelated patients with BC and 340 cancer-free controls using a real-time allelic discrimination polymerase chain reaction. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to estimate the strength of association under several genetic models. In silico analysis of AIRE was also executed. RESULTS:The minor allele (A) frequency of the specified variant accounted for 0.28 in the controls. G/G homozygote was significantly more frequent among patients (94%) compared to controls (66%) (P < .001). After adjusting confounding variables, individuals with A allele conferred protection against developing BC under allelic model (OR = 0.33, 95% CI = 0.20-0.55), recessive model (OR = 0.25, 95% CI = 0.10-0.60), dominant model (OR = 0.12, 95% CI = 0.05-0.29), and homozygote comparison (OR = 0.20, 95% CI = 0.08-0.50). In silico analysis revealed AIRE enrichment in several cancer-related pathways. Kaplan-Meier plotter for the cancer databases showed association of AIRE expression with prognosis in triple-negative BC (HR = 2.44, 95% CI = 1.44-4.15, log-rank P-value < .001). CONCLUSION:The AIRE rs2075876 G>A variant showed association with BC risk in the study population. Further large-scale replication studies in different ethnicity are warranted to confirm the findings.

SUBMITTER: Fawzy MS

PROVIDER: S-EPMC7521301 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.

Fawzy Manal S MS Toraih Eman A EA

Journal of clinical laboratory analysis 20200519 9

<h4>Background</h4>Recently, unexpected autoimmune regulator (AIRE) implication in the scenario of several cancers, including breast cancer (BC), has emerged. This study aims to explore for the first time the possible association between AIRE gene rs2075876 G>A variant and BC risk in a sample of the Middle East population.<h4>Method</h4>In this case-control study, we genotyped AIRE rs2075876 G>A variant in 200 unrelated patients with BC and 340 cancer-free controls using a real-time allelic disc ...[more]

PMID: 32426878

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Project description:BackgroundEstrogen has played an important role in the development of breast cancer. ER-α PvuII gene polymorphism is in close association with the occurrence risk of breast cancer, but no consensus has been achieved currently.MethodsPubMed, Embase, China National Knowledge Infrastructure (CNKI) database, Wanfang database, and VIP database were retrieved to collect the case-control studies on association between ERα gene Pvu II polymorphism and breast cancer risk published before September 1, 2017. Newcastle-Ottawa Scale (NOS) was used to assess the quality of the literatures, Stata 14.0 software was applied for meta-analysis, and the pooled odds ratio (OR) and 95% confidence interval (95% CI) were calculated. The subgroup analysis was performed to assess the confounding factors, followed by assessment of publication bias and sensitivity analysis.ResultsA total of 26 studies were enrolled in the analysis based on inclusion criteria, which included 15,360 patients and 26,423 controls. The results demonstrated that ERα gene Pvu II polymorphism was in significant association with the decrease of breast cancer risk in 3 genetic models (C vs T, OR = 0.962, 95% CI = 0.933-0.992, P = .012; CC vs TT, OR = 0.911, 95% CI = 0.856-0.969, P = .003; CC vs TT/CT, OR = 0.923, 95% CI = 0.874-0.975, P = .004). Subgroup analysis was conducted on the basis of ethnicity and source of controls, whose results illustrated that ERα gene Pvu II polymorphism was in significant association with the decrease of breast cancer risk in Asians rather than in Caucasians (CC vs TT, OR = 0.862, 95% CI = 0.750-0.922, P = .038; CC vs TT/CT, OR = 0.851, 95% CI = 0.755-0.959, P = .008). In population-based subgroup rather than in hospital-based subgroup, ERα gene Pvu II polymorphism was in significant association with the decrease of breast cancer risk in the allele model, homozygous model, dominant model, and recessive model (C vs T, OR = 0.943, 95% CI = 0.911-0.977, P = .001; CC vs TT, OR = 0.878, 95% CI = 0.817-0.944, P = .000; CC/CT vs TT, OR = 0.936, 95% CI = 0.881-0.994, P = .031; CC vs TT/CT, OR = 0.902, 95% CI = 0.847-0.960, P = .001).ConclusionERα gene Pvu II polymorphism exerts an important function in the progression of breast cancer.

Dataset Information

Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.

Publications

Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.

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