Pri-miR-124 rs531564 and pri-miR-34b/c rs4938723 Polymorphisms Are Associated with Decreased Risk of Esophageal Squamous Cell Carcinoma in Chinese Populations

Zhang, Junjie; Huang, Xuewen; Xiao, Junhui; Yang, Yajun; Zhou, Yinghui; Wang, Xiaofeng; Liu, Qingmei; Yang, Jingmin; Wang, Mengyun; Qiu, Lixin; Zheng, Yabiao; Zhang, Ping; Li, Jin; Wang, Ya’nong; Wei, Qingyi; Jin, Li; Wang, Jiucun; Wang, Minghua

doi:10.1371/journal.pone.0100055

Cited by 57 publications

(54 citation statements)

References 34 publications

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“…Based on the selection criteria above, five case-control studies (13)(14)(15)(16)(17) were finally enrolled in the meta-analysis with publication years that ranged from 2011 to 2014. The detailed literature retrieval process is presented in Fig.…”

Section: Resultsmentioning

confidence: 99%

“…A total of 4,763 subjects were involved in the meta-analysis, including 2,253 cancer cases and 2,510 healthy controls. Multiple cancer types were analyzed in the studies, including triple-negative breast cancer (13), cervical cancer (15) and ESCC (14,(16)(17). The diagnoses of these tumors were confirmed by histological or histopathological examinations.…”

Section: Resultsmentioning

confidence: 99%

“…However, Xiong et al (15) identified that the G allele of rs531564 was less frequent in the cervical cancer patients when compared with healthy subjects (P=0.014) and the polymorphism was clearly associated with a reduced risk of cervical cancer in Chinese women. In addition, You (16) and Zhang et al (17) reported that the rs531564 genotype was significantly associated with the risk of esophageal squamous cell carcinoma (ESCC) in Chinese populations. The results were contradictory and inconclusive, therefore a meta-analysis was performed in the present study to evaluate the association between the rs531564 polymorphism and cancer susceptibility in the Chinese population.…”

Section: Introductionmentioning

confidence: 99%

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Association of the pri-miR-124-1 rs531564 polymorphism with cancer risk: A meta-analysis

Fang

Zeng

et al. 2015

Molecular and Clinical Oncology

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Abstract.Recently, several studies regarding the association between the pri-miR-124-1 rs531564 polymorphism and cancer susceptibility were explored. Owing to inconsistent results of these studies, a meta-analysis was conducted to determine the association of this polymorphism with cancer risk. Relevant studies were identified by a systematic search of PubMed, EMBASE, Web of Science and CNKI on-line databases. Odds ratios (ORs) and 95% confidence intervals (CIs) from eligible studies were pooled, and heterogeneity and publication bias were also evaluated. A total of five studies with 2,253 cases and 2,510 controls were included in the meta-analysis. Overall, the results showed that the pri-miR-124-1 rs531564 polymorphism was significantly associated with a reduced cancer risk (G vs. C: OR, 0.86; 95% CI, 0.77-0.96; GG vs. CC: OR, 0.52; 95% CI, 0.34-0.79; GG vs. CG/CC: OR, 0.54; 95% CI, 0.36-0.81). Furthermore, in the subgroup analysis by cancer sites, a statistical association was identified between the rs531564 polymorphism and a decreased esophageal squamous cell carcinoma (ESCC) risk (G vs. C: OR, 0.87; 95% CI, 0.77-0.98; GG vs. CC: OR, 0.54; 95% CI, 0.34-0.84). These findings suggested that the genetic variant of rs531564 may have a potential value in decreasing cancer risk, particularly in ESCC patients.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Association of the pri-miR-124-1 rs531564 polymorphism with cancer risk: A meta-analysis

Fang

Zeng

et al. 2015

Molecular and Clinical Oncology

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“…Zhu et al (23) found no significant association between the pri-miR-34b/c rs4938723 variant and esophageal squamous cell carcinoma (ESCC) in Kazakh patients in northwest China. However, Zhang et al (24) reported that pri-miR-34b/c rs4938723 significantly decreased the risk of ESCC in Chinese populations.…”

Section: Discussionmentioning

confidence: 99%

“…miR-34a is encoded by its own transcript, while miR-34b and miR-34c share a common primary transcript (pri-miR-34b/c) (9). The promoter region of miR-34b/c transcripts contains p53-binding sites (22 Numerous studies investigated the impact of miR-34b/c rs4938723 on the risk of various cancers, but the results are inconsistent (19,(23)(24)(25)(26)(27)(28)(29)(30)(31). To the best of our knowledge, there is only one previous study regarding the impact of the miR-34b/c variant on BC risk (32).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the pri-miR-34b/c rs4938723 polymorphism and its association with breast cancer risk

et al. 2016

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Abstract. MicroRNAs (miRNAs or miRs) are a family of small non-coding RNAs that function as oncogenes or tumor suppressor genes. Recent evidence suggests that the pri-miR-34b/c rs4938723 variant is associated with the development of cancer. At present, there is an inconsistent association between the single-nucleotide polymorphism in pri-miR-34b/c and cancer in the limited studies. The present study is a case-control investigation, with 263 breast cancer (BC) patients and 221 control women, which examined the potential association of the pri-miR-34b/c rs4938723 polymorphisms with BC susceptibility. The polymorphisms were genotyped by the polymerase chain reaction restriction fragment length polymorphism method. No significant association between the pri-miR-34b/c rs4938723 variant and BC was identified [TC vs. TT: Odds ratio (OR), 0.87; 95% confidence interval (CI), 0.60-1.26; P=0.506; CC vs. TT: OR, 1.22; 95% CI, 0.61-2.47; P= 0.600; TC+CC vs. TT: OR, 0.91; 95% CI, 0.64-1.31; P= 0.648; CC vs. TT+TC: OR, 1.32; 95% CI, 0.67-2.59; P= 0.498; C vs. T: OR, 0.99; 95% CI, 0.75-1.31; P= 0.986]. However, a significant association was observed between the pri-miR-34b/c rs4938723 genotypes and clinicopathological characteristics, such a grade, progesterone receptor and human epidermal growth factor receptor 2 status were observed (P<0.05). These findings suggest that the pri-miR-34b/c rs4938723 variant may not be a risk factor for the development of BC. IntroductionBreast cancer (BC), the most prevalent type of cancer in women, is a major public and global health problem and accounts for 14% of total annual cancer fatalities worldwide (1). Similarly, BC is the most common malignancy affecting Iranian women (2). Although the etiology of BC remains to be identified, genetic factors are shown to have important roles in the pathogenesis and progress of this malignancy (3-8).MicroRNAs (miRNAs or miRs) are a class of single-stranded non-coding RNA typically 17-25 nucleotides in length that have key roles in the regulation of cellular processes by targeting mRNAs for cleavage or translational repression (9,10). They regulate the expression of genes at the post-transcriptional level by targeting the 3' untranslated regions of mRNAs. Cumulative evidence suggests that the dysregulation of miRNA expression is involved in the tumorigenesis by acting as tumor suppressors or oncogenes (11-15). Single-nucleotide polymorphisms (SNPs) or mutations in miRNA genes can affect the miRNA biosynthesis and expression of target genes, therefore resulting in diverse functional consequences and thereby possibly representing potentially important biomarkers for the prognosis of cancer (7,(16)(17)(18).The pri-miR-34b/c gene resides in a CpG island within the intron of the B-cell translocation gene 4. Therefore, it is expected that pri-miR-34b/c is co-transcribed by either the promoter of the protein-coding gene or by its own transcription initiation region, as is the case with the majority of miRNAs, whether they are intergenic or located within the i...

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Validation of microRNA pathway polymorphisms in esophageal adenocarcinoma survival

et al. 2017

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Polymorphisms in miRNA and miRNA pathway genes have been previously associated with cancer risk and outcome, but have not been studied in esophageal adenocarcinoma outcomes. Here, we evaluate candidate miRNA pathway polymorphisms in esophageal adenocarcinoma prognosis and attempt to validate them in an independent cohort of esophageal adenocarcinoma patients. Among 231 esophageal adenocarcinoma patients of all stages/treatment plans, 38 candidate genetic polymorphisms (17 biogenesis, 9 miRNA targets, 5 pri-miRNA, 7 pre-miRNA) were genotyped and analyzed. Cox proportional hazard models adjusted for sociodemographic and clinicopathological covariates helped assess the association of genetic polymorphisms with overall survival (OS) and progression-free survival (PFS). Significantly associated polymorphisms were then evaluated in an independent cohort of 137 esophageal adenocarcinoma patients. Among the 231 discovery cohort patients, 86% were male, median diagnosis age was 64 years, 34% were metastatic at diagnosis, and median OS and PFS were 20 and 12 months, respectively. GEMIN3 rs197412 (aHR = 1.37, 95%CI: [1.04-1.80]; P = 0.02), hsa-mir-124-1 rs531564 (aHR = 0.60, 95% CI: [0.53-0.90]; P = 0.05), and KIAA0423 rs1053667 (aHR = 0.51, 95% CI: [0.28-0.96]; P = 0.04) were found associated with OS. Furthermore, GEMIN3 rs197412 (aHR = 1.33, 95% CI: [1.03-1.74]; P = 0.03) and KRT81 rs3660 (aHR = 1.29, 95% CI: [1.01-1.64]; P = 0.04) were found associated with PFS. Although none of these polymorphisms were significant in the second cohort, hsa-mir-124-1 rs531564 and KIAA0423 rs1053667 had trends in the same direction; when both cohorts were combined together, GEMIN3 rs197412, hsa-mir-124-1 rs531564, and KIAA0423 rs1053667 remained significantly associated with OS. We demonstrate the association of multiple miRNA pathway polymorphisms with esophageal adenocarcinoma prognosis in a discovery cohort of patients, which did not Cancer Medicine Open Access 362

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Pri-miR-124 rs531564 and pri-miR-34b/c rs4938723 Polymorphisms Are Associated with Decreased Risk of Esophageal Squamous Cell Carcinoma in Chinese Populations

Cited by 57 publications

References 34 publications

Association of the pri-miR-124-1 rs531564 polymorphism with cancer risk: A meta-analysis

Association of the pri-miR-124-1 rs531564 polymorphism with cancer risk: A meta-analysis

Evaluation of the pri-miR-34b/c rs4938723 polymorphism and its association with breast cancer risk

Validation of microRNA pathway polymorphisms in esophageal adenocarcinoma survival

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