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pmid:37181023
Screening of key pathogenic genes of type 1 diabetes in children.
Shanshan Zhan · Dewan Xu · Chen Ling · Yulian Xia
Translational pediatrics · 2023 doi:10.21037/tp-23-201
Paper
complete
Experiment
complete
Data
partial
Analysis
partial
Execution
absent
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Record details sci_version · id · kind · revision · content_hash · schema · created_at · updated_at · generator
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Complete file
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These key pathogenic genes can serve as biological markers for early diagnosis and classification, as well as therapeutic targets. However, there is currently a lack of relevant research on screening key pathogenic genes based on sequencing data and efficient algorithms.\nMethods: The transcriptome sequencing results of peripheral blood mononuclear cells (PBMCs) of children with T1DM (GSE156035) were downloaded from the Gene Expression Omnibus (GEO) database. The data set contained 20 T1DM samples and 20 control samples. Differentially expressed genes (DEGs) in children with T1DM were selected based on fold change (FC) >1.5 times and adjusted P value <0.05. The weighted gene co-expression network was constructed. Hub genes were screened as modular membership (MM) >0.8 and gene significance (GS) >0.5. Intersection genes of DEGs and hub genes were defined as key pathogenic genes. The diagnostic efficacy of key pathogenic genes was evaluated using receiver operator characteristic (ROC) curves.\nResults: A total of 293 DEGs were selected. Compared with the control group, 94 genes were down-regulated and 199 genes were up-regulated in the treatment group. Black modules (Cor =0.52, P=2e-12) were positively correlated with diabetic traits, whereas brown modules (Cor =-0.51, P=5e-12) and pink modules (Cor =-0.53, P=5e-13) were negatively correlated with diabetic traits. The black module contained 15 hub genes, the pink gene module contained 9 hub genes, and the brown module contained 52 hub genes. The intersection of hub genes and DEGs contained 2 genes, CCL25 and EGFR. The expression of CCL25 and EGFR was low in control samples and high in the test group (P<0.001). The areas under ROC curves (AUCs) of CCL25 and EGFR were 0.852 and 0.867, respectively (P<0.05).\nConclusions: Weighted correlation network analysis (WGCNA) was used to identify the key pathogenic genes of T1DM in children, including CCL25 and EGFR, which have good diagnostic efficacy for T1DM in children.", "claims": [{"id": "claim-method", "statement": "The diagnostic efficiency of the key genes for childhood T1DM was evaluated using a receiver operating characteristic (ROC) curve.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:37181023", "locator": "sections[8] \"Statistical analysis\" paragraph 2", "quote": "The diagnostic efficiency of the key genes for childhood T1DM was evaluated using a receiver operating characteristic (ROC) curve."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The full transcriptome sequencing results of PBMCs from children with T1DM were obtained from the Gene Expression Omnibus (GEO) database (GSE156035), comprising 20 T1DM samples and 20 normal samples.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:37181023", "locator": "sections[4] \"Data download\" paragraph 2", "quote": "The full transcriptome sequencing results of PBMCs from children with T1DM were obtained from the Gene Expression Omnibus (GEO) database (GSE156035), comprising 20 T1DM samples and 20 normal samples."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": null, "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:37181023"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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the checksum covers the rendered section body, not the original XML bytes.", "structure": {"pmcid": "PMC10167398", "source": "europe_pmc_fulltext", "coverage": "whole_body_without_references", "text_hash_scope": "rendered_section_body"}}, {"id": "data:geo:GSE156035", "role": "raw", "format": "geo-series", "media_type": "application/vnd.ncbi.geo-series+json", "uri": "https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE156035", "sha256": null, "bytes": null, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "GSE156035", "version": null, "note": "The full transcriptome sequencing results of PBMCs from children with T1DM were obtained from the Gene Expression Omnibus (GEO) database (GSE156035), comprising 20 T1DM samples and 20 normal samples.", "structure": {"repository": "GEO", "access_route": "GEO accession URL", "access_statement_verbatim": "The full transcriptome sequencing results of PBMCs from children with T1DM were obtained from the Gene Expression Omnibus (GEO) database (GSE156035), comprising 20 T1DM samples and 20 normal samples.", "access_statement_kind": "repository_route_statement", "sample_accessions": ["GSM4720871", "GSM4720872", "GSM4720873", "GSM4720874", "GSM4720875", "GSM4720876", "GSM4720877", "GSM4720878", "GSM4720879", "GSM4720880", "GSM4720881", "GSM4720882", "GSM4720883", "GSM4720884", "GSM4720885", "GSM4720886", "GSM4720887", "GSM4720888", "GSM4720889", "GSM4720890", "GSM4720891", "GSM4720892", "GSM4720893", "GSM4720894", "GSM4720895", "GSM4720896", "GSM4720897", "GSM4720898", "GSM4720899", "GSM4720900", "GSM4720901", "GSM4720902", "GSM4720903", "GSM4720904", "GSM4720905", "GSM4720906", "GSM4720907", "GSM4720908", "GSM4720909", "GSM4720910"], "sample_count": 40, "group_sizes": null, "group_sizes_basis": null, "platform": "20844", "taxon": "Homo sapiens", "title": "Inflammatory pathways in peripheral blood expression profile of recent-onset type 1 diabetes", "resolution_checked_at": "2026-11-01T18:46:34Z", "resolution_check": "identifier_resolution_only_no_download_no_licence_read", "downloaded": false, "licence_read": false}}], "gaps": ["asset:data:geo:GSE156035 not downloaded", "asset:data:geo:GSE156035 licence not read"]}, "analysis": {"state": "partial", "methods": [{"id": "method-1", "family": null, "specific": null, "label": "receiver operating characteristic (ROC) curve", "dsl_operations": [], "missing_operations": [], "expressible": null, "parameters": {}, "data_shapes": [], "evidence": {"score": 1.0, "band": "verbatim", "quote": "The diagnostic efficiency of the key genes for childhood T1DM was evaluated using a receiver operating characteristic (ROC) curve."}}], "targets": [], "gaps": ["method.reader_named_unmapped"]}, "capability": {"state": "complete", "requirements": [{"capability_id": "capability:computational_analysis", "label": "Computational analysis platform", "assay_families": ["meta_analysis", "machine_learning", "survival_analysis", "statistical_regression", "pca", "molecular_docking", "network_analysis", "differential_expression", "gwas"], "availability_state": "owned", "tier_unlocked": "R1", "candidate": "Automated Assays Laravel application and simulated adapters"}], "gaps": []}, "readiness": {"state": "blocked", "tier": "R4", "blocking_axis": "method", "blocked_on": "method:not_determinable", "axes": {"method": {"tier": "R4", "expressible": false, "required_operations": [], "missing_operations": [], "basis": "The reader quoted the method the paper names (receiver operating characteristic (ROC) curve), but the corpus's method extractor could not map it onto a DSL operation, so the method is published but not expressible."}, "capability": {"tier": "R1", "capability_id": "capability:computational_analysis", "availability_state": "owned", "basis": "The computational analysis is owned. 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