Hui Yuan

Microarray profile of circular RNAs identifies hsa_circ_0014130 as a new circular RNA biomarker in non-small cell lung cancer

Accumulating evidence has revealed that aberrant Circular RNAs (circRNAs) expression plays important roles in carcinogenesis and tumor progression. However, their role in non-small cell lung cancer (NSCLC) remains unclear. In this study, we first used circRNA microarrays to screen for tumour-specific circRNA candidates in between NSCLC (n = 3) and adjacent lung (n = 3) tissue. Among the circRNA expression profile, two circRNAs (hsa_circ_0014130 and hsa_circ_0016760) were selected for validation in ten pairs of NSCLC and adjacent non-cancerous tissues by real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR). Only hsa_circ_0014130 exhibited significantly overexpressed in NSCLC tissues (P < 0.001), which were further confirmed in another 36 matched tissue samples using qRT-PCR. Hsa_circ_0014130 expression significantly correlated with TNM stage (P = 0.001) and lymphatic metastasis (P = 0.004). The area under the receiver operating characteristic curve was 0.878 (95% confidence interval = 0.804–0.951; P < 0.001), which showed good diagnostic potential. Bioinformatics platforms predicted that hsa_circ_0014130 might interact with five miRNAs and their corresponding mRNAs. Gene oncology analysis and pathway analysis revealed that hsa_circ_0014130 could participate in NSCLC development. In summary, our findings indicated that hsa_circ_0014130 could be used as a potential NSCLC biomarker and might be closely related to the carcinogenesis of NSCLC.

Association of FCGR2A/FCGR3A variant rs2099684 with Takayasu arteritis in the Han Chinese population

Takayasu arteritis (TA) is a chronic large-vessel vasculitis of unclear pathogenesis. A recent genome-wide association study (GWAS) has revealed that the FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX genes confer susceptibility to TA. We investigated the linkage between presumptive TA-related genes (FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX) and TA in the Han Chinese population. We performed a large case-control multi-center study of 412 Han Chinese TA patients and 597 ethnically matched healthy controls. Five single nucleotide polymorphisms (SNPs) were assessed and genotyped using Sequenom MassArray system (iPLEX assay, Sequenom, San Diego, CA, USA). The frequency of the rs2099684 variant G allele in the FCGR2A/FCGR3A gene was significantly higher in the TA patients than in the controls (37.5% compared with 25.4%, OR =1.77, 95% CI: 1.462.14, Pc =1.5×10-8). Similar results were observed in genotype distribution analysis and logistic regression analyses conducted using three genetic models. The allele and genotype distributions for the other polymorphisms were not significantly associated with TA among the Han Chinese patients. The SNP rs2099684 in FCGR2A/FCGR3A can be considered a genetic risk factor for TA in the Chinese Han population. These findings provide further insights into the etiopathogenesis of TA.

Circulating microRNA signature for the diagnosis of childhood dilated cardiomyopathy

Circulating miRNAs are proposed as a biomarker of heart disease. This study evaluated whether circulating miRNAs could be used as a biomarker for childhood dilated cardiomyopathy (CDCM). A total of 28 participants were enrolled in a discovery set, including patients with CDCM (n = 16) and healthy children (n = 12). The cardiac function of patients with CDCM was characterized by echocardiography and serum miRNA profiles of all participants were assessed by miRNA sequencing. After miRNA profiling, we quantitatively confirmed 148 regulated miRNAs in patients with CDCM compared with healthy subjects, and none were downregulated. Validation of candidate miRNAs was assessed by quantitative real-time polymerase chain reaction in other patients with CDCM (n = 30) and healthy controls (n = 16). A unique signature comprising mir-142-5p, mir-143-3p, mir-27b-3p, and mir-126-3p differentiated patients with CDCM from healthy subjects. Importantly, we observed an increase in mir-126-3p or let-7g in parallel with a robust decrease in the ejection fraction in patients with CDCM, which could differentiate heart failure patients from non-heart failure patients with CDCM. Moreover, mir-126-3p and let-7g were significantly negatively associated with the left ventricular ejection fraction. This study shows that a signature of four serum miRNAs may be a potential biomarker for diagnosing CDCM and assessing heart failure.

Circular RNA as a biomarker for cancer: A systematic meta‑analysis

Circular RNAs (circRNAs) may serve as biomarkers for a potentially non-invasive diagnosis of cancer. To understand their diagnostic performance, a systematic meta-analysis of the published literature was conducted to review the diagnostic efficiency of circRNAs in patients with cancer. Eligible studies published up to November 30, 2017, on PubMed and EMBASE, were selected for the meta-analysis. All studies were carefully and independently reviewed by two researchers based on their titles and abstracts, following which full texts were perused for potential eligibility. All statistical analyses were performed by STATA 13.0 statistical software and Meta-DiSc 1.4. A total of 10 eligible studies were included. The pooled diagnostic odds ratio was 7.265. The pooled sensitivity was 0.708 and the pooled specificity was 0.722. The positive likelihood and negative likelihood ratios were 2.483 and 0.372, respectively. The area under the curve was 0.793. circRNA was determined to be a notably effective assistant diagnostic biomarker for cancer.

Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population

The aim of our study was to investigate the association between single nucleotide polymorphisms (SNPs) in the BANK1 gene and polymyositis/dermatomyositis (PM/DM) in a Chinese Han population. In total, 363 PM patients, 654 DM patients, and 1280 healthy controls were recruited and genotyped using the Sequenom MassArray system. A significant allele association was observed in rs3733197 among the PM/DM patients (OR 0.81, 95%CI 0.70–0.94, Pc = 1.83 × 10−2). Notably, rs3733197 was associated with DM and PM/DM patients with ILD involvement (Pc = 0.026; Pc = 6.0 × 10−3, respectively). However, no statistically significant difference was observed in the allele or genotype frequencies of three SNPs (rs4522865, rs17266594, and rs10516487) among the DM, PM, and PM/DM patients and healthy controls (all Pc > 0.05). This study was the first to demonstrate that a BANK1 gene SNP (rs3733197) could confer genetic predisposition in PM/DM patients and PM/DM patients with ILD in a Chinese Han population.

Single nucleotide polymorphisms in the ETS1 gene are associated with idiopathic inflammatory myopathies in a northern Chinese Han population.

Single-nucleotide polymorphisms (SNPs) in the ETS1 gene are associated with several auto-inflammatory diseases. In this study, we determined whether ETS1 gene polymorphisms confer susceptibility to idiopathic inflammatory myopathies (IIMs) in a northern Chinese Han population. DNA samples were collected from 1017 IIM patients: 363 PM cases and 654 DM cases. The results were compared with those of 1280 healthy controls. Five SNPs in the ETS1 region (rs7117932, rs6590330, rs4937362, rs10893845 and rs1128334) were assessed and genotyped using the Sequenom platform. Our data indicated that the rs7117932 alleles and genotypes are associated with DM and IIMs (Pc = 6.0 × 10−3 and Pc = 0.029; Pc = 0.013 and Pc = 0.019, respectively). We found a significantly greater percentage of DM and IIM patients with an A allele of rs6590330 than that in the control population (Pc = 0.033 and Pc = 0.013). Additionally, the rs6590330 genotype was associated with IIMs (Pc = 0.020). The percentages of rs7117932 and rs6590330 SNPs were significantly greater in DM and IIM patients with interstitial lung disease (ILD) (all Pc < 0.05). This is the first study to reveal that ETS1 polymorphisms are associated with IIMs alone and IIMs with ILD in a northern Chinese Han population.

Association between genetic variants in the human leukocyte antigen‐B/MICA and Takayasu arteritis in Chinese Han population

Takayasu arteritis (TA) is a rare autoimmune disease with ethnic differences. Genome‐wide association studies (GWAS) showed novel genetic variants in the human leukocyte antigen (HLA) region were associated with TA. The present study aimed to investigate the linkage between these single nucleotide polymorphisms (SNP) and TA in a Chinese Han population.