Association of<i>CFHR1</i>homozygous deletion with acute myelogenous leukemia in the European population

Fratelli, Maddalena; Bolis, Marco; Kurosaki, Mami; Dori, Martina; Guarnaccia, Valeria; Spinelli, Orietta; Alberti, Marta; Valoti, Elisabetta; Pileggi, Silvana; Noris, Marina; Terao, Mineko; Garattini, Enrico

doi:10.3109/10428194.2015.1082180

Cited by 7 publications

(10 citation statements)

References 15 publications

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“…Shi et al (2016) found that the level of FCGRT was down-regulation in clinical HCC samples. It has been reported that IL27 plays an important role in cancer and immunity (Fabbi, Carbotti & Ferrini, 2017), CD1D is a key factor in immunotherapy (King et al, 2018), and the homozygous deletion of CFHR1 is associated with acute myeloid leukemia (Fratelli et al, 2016), moreover, the stratified analysis of expression and prognosis found that NCOA6 is highly positively correlated with the grade of liver cancer, and this was the first time to prove that NCOA6 is associated with clinical stratification of liver cancer. Knockdown of signature gene CTSE for CD24+/CD44+ cells significantly reduced selfrenewal ability on HCC cells in vitro and in vivo (Ho et al, 2019).…”

Section: Discussionmentioning

confidence: 76%

“…Cox proportional hazard regression model (Kneale, Mancuso & Stewart, 1981) was used for performing a univariate analysis of the relationship among 319 immune genes and HCC prognosis, as shown in Table 2, 17 genes were identified as significantly associated with prognosis, specifically, 4 genes were risk factors, while 13 genes were protective factors. Moreover, most of these genes were found related to complex diseases, for example, the most significant homozygous deletion of CFHR1 is associated with leukemia (Fratelli et al, 2016), APOA2 allelic imbalance is involved in endometrial cancer (Goumenou et al, 2001), and specific inhibition of SOD1 selectively promotes cancer cell apoptosis through regulating the ROS signaling network (Li et al, 2019). Furthermore, we performed a multivariate regression analysis to establish a risk model for 17 immune genes with the model's AUC = 0.87 ( Fig.…”

Section: Immune Gene Can Be Used As a Prognostic Markermentioning

confidence: 99%

“…When λ = 0.02359167, the error rate was minimized (Fig. 3A), and seven genes, namely, IL27, CD1D NCOA6, CTSE, FCGRT, CFHR1 and APOA2, were obtained, among which IL27 plays an important role in cancer and immunity (Fabbi, Carbotti & Ferrini, 2017), CD1D is a key factor in immunotherapy (King et al, 2018) and the homozygous deletion of CFHR1 is associated with acute myeloid leukemia (Fratelli et al, 2016). A 7-immuno-gene signature was established by a multivariate COX regression analysis with the model:…”

Section: Identification Of a 7-immu-gene Signature For Hcc Survivalmentioning

confidence: 99%

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Bioinformatics profiling identifies seven immune-related risk signatures for hepatocellular carcinoma

Xue

Yang

Dai

et al. 2020

PeerJ

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Background Density of tumor infiltrating lymphocytes (TIL) and expressions of certain immune-related genes have prognostic and predictive values in hepatocellular carcinoma (HCC); however, factors determining the immunophenotype of HCC patients are still unclear. In the current study, the transcript sequencing data of liver cancer were systematically analyzed to determine an immune gene marker for the prediction of clinical outcome of HCC. Methods RNASeq data and clinical follow-up information were downloaded from The Cancer Genome Atlas (TCGA), and the samples were assigned into high-stage and low-stage groups. Immune pathway-related genes were screened from the Molecular Signatures Database v4.0 (MsigDB) database. LASSO regression analysis was performed to identify robust immune-related biomarkers in predicting HCC clinical outcomes. Moreover, an immune gene-related prognostic model was established and validated by test sets and Gene Expression Omnibus (GEO) external validation sets. Results We obtained 319 immune genes from MsigDB, and the genes have different expression profiles in high-stage and low-stage of HCC. Univariate survival analysis found that 17 genes had a significant effect on HCC prognosis, among them, 13 (76.5%) genes were prognostically protective factors. Further lasso regression analysis identified seven potential prognostic markers (IL27, CD1D, NCOA6, CTSE, FCGRT, CFHR1, and APOA2) of robustness, most of which are related to tumor development. Cox regression analysis was further performed to establish a seven immune gene signature, which could stratify the risk of samples in training set, test set and external verification set (p < 0.01), and the AUC in both training set and test set was greater than 0.85, which also greater compared with previous studies. Conclusion This study constructed a 7-immunogenic marker as novel prognostic markers for predicting survival of HCC patients.

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Section: Discussionmentioning

confidence: 76%

Section: Immune Gene Can Be Used As a Prognostic Markermentioning

confidence: 99%

Section: Identification Of a 7-immu-gene Signature For Hcc Survivalmentioning

confidence: 99%

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Bioinformatics profiling identifies seven immune-related risk signatures for hepatocellular carcinoma

Xue

Yang

Dai

et al. 2020

PeerJ

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“…It competes with complement factor H (CFH) to bind to C3b, thereby functioning as an antagonist of CFH-directed regulation at cell surfaces. Previous studies have also revealed that CFHR1 may play an important role in acute myelogenous leukemia ( Fratelli et al, 2016 ), IgA nephropathy ( Zhu et al, 2015 ), and chronic central serous chorioretinopathy ( Schellevis et al, 2018 ). Arya & Estrela (2018) revealed that CFHR1 can serve as a protein biomarker in urine for the diagnosis of bladder cancer, and Guo et al (2015) found that CFHR1 levels were significantly higher in Uyghur patients with early-stage cervical carcinomas than in healthy Uyghur women.…”

Section: Discussionmentioning

confidence: 99%

Novel circulating protein biomarkers for thyroid cancer determined through data-independent acquisition mass spectrometry

Liu

et al. 2020

PeerJ

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Background Distinguishing between different types of thyroid cancers (TC) remains challenging in clinical laboratories. As different tumor types require different clinical interventions, it is necessary to establish new methods for accurate diagnosis of TC. Methods Proteomic analysis of the human serum was performed through data-independent acquisition mass spectrometry for 29 patients with TC (stages I–IV): 13 cases of papillary TC (PTC), 10 cases of medullary TC (MTC), and six cases follicular TC (FTC). In addition, 15 patients with benign thyroid nodules (TNs) and 10 healthy controls (HCs) were included in this study. Subsequently, 17 differentially expressed proteins were identified in 291 patients with TC, including 247 with PTC, 38 with MTC, and six with FTC, and 69 patients with benign TNs and 176 with HC, using enzyme-linked immunosorbent assays. Results In total, 517 proteins were detected in the serum samples using an Orbitrap Q-Exactive-plus mass spectrometer. The amyloid beta A4 protein, apolipoprotein A-IV, gelsolin, contactin-1, gamma-glutamyl hydrolase, and complement factor H-related protein 1 (CFHR1) were selected for further analysis. The median serum CFHR1 levels were significantly higher in the MTC and FTC groups than in the PTC and control groups (P < 0.001). CFHR1 exhibited higher diagnostic performance in distinguishing patients with MTC from those with PTC (P < 0.001), with a sensitivity of 100.0%, specificity of 85.08%, area under the curve of 0.93, and detection cut-off of 0.92 ng/mL. Conclusion CFHR1 may serve as a novel biomarker to distinguish PTC from MTC with high sensitivity and specificity.

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“…At the same time, large international genome-wide association studies have shown that deletion of CFHR1 is associated with a reduced risk of developing IgA nephropathy (10). Fratelli et al (11) found that the germinal homozygous deletion of the CFHR1 gene could act as a promising risk factor for acute myelogenous leukemia. Another report also indicated that CFHR1 was homozygously deleted in the cisplatin-resistance glioma cell lines U251 and CP2 (12).…”

Section: Introductionmentioning

confidence: 99%

CFHR1 is a potentially downregulated gene in lung adenocarcinoma

Yan

Wang

et al. 2019

Mol Med Report

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There is increasing evidence that human complement factor H-related protein 1 (CFHR1) plays a crucial role in the development of malignant diseases. However, few studies have identified the roles of CFHR1 in the occurrence and prognosis of lung adenocarcinoma (LADC). In the present study, comprehensive bioinformatic analyses of data obtained from the Oncomine platform, UALCAN and Gene Expression Profiling Interactive Analysis (GEPIA) demonstrated that CFHR1 expression is significantly reduced in both LADC tissues and cancer cells. The patients presenting with downregulation of CFHR1 had significantly lower overall survival (OS) and post progression survival (PPS) times. Through analysis of the datasets from Gene Expression Omnibus database, we found that the compound actinomycin D promoted CFHR1 expression, further displaying the cytotoxic effect in the LADC cell line A549. In addition, the expression level of CFHR1 in the cisplatin-resistant LADC cell line CDDP-R (derived from H460) was also significantly reduced. Our research demonstrated that low levels of CFHR1 are specifically found in LADC samples, and CFHR1 could serve as a potential therapeutic target for this subset of lung cancers. Determination of the detailed roles of CFHR1 in LADC biology could provide insightful information for further investigations.

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Association ofCFHR1homozygous deletion with acute myelogenous leukemia in the European population

Cited by 7 publications

References 15 publications

Bioinformatics profiling identifies seven immune-related risk signatures for hepatocellular carcinoma

Bioinformatics profiling identifies seven immune-related risk signatures for hepatocellular carcinoma

Novel circulating protein biomarkers for thyroid cancer determined through data-independent acquisition mass spectrometry

CFHR1 is a potentially downregulated gene in lung adenocarcinoma

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