A genetic variant in the immune-related gene ERAP1 affects colorectal cancer prognosis.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:37690994", "kind": "science-record", "revision": 2, "content_hash": "sha256:44ffd9ee23d86ba68b5d85a78178eb623a83c0053ab2e20a18b0ff764c57f5dd", "created_at": "2026-11-01T19:02:29Z", "updated_at": "2026-11-01T21:31:31Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "A genetic variant in the immune-related gene ERAP1 affects colorectal cancer prognosis.", "doi": "10.1097/CM9.0000000000002845", "pmid": "37690994", "authors": ["Danyi Zou", "Yimin Cai", "Meng Jin", "Ming Zhang", "Yizhuo Liu", "Shuoni Chen", "Shuhui Yang", "Heng Zhang", "Xu Zhu", "Chaoqun Huang", "Ying Zhu", "Xiaoping Miao", "Yongchang Wei", "Xiaojun Yang", "Jianbo Tian"], "journal": "Chinese medical journal", "year": 2024, "abstract": "BACKGROUND: Findings on the association of genetic factors and colorectal cancer (CRC) survival are limited and inconsistent, and revealing the mechanism underlying their prognostic roles is of great importance. This study aimed to explore the relationship between functional genetic variations and the prognosis of CRC and further reveal the possible mechanism.\nMETHODS: We first systematically performed expression quantitative trait locus (eQTL) analysis using The Cancer Genome Atlas (TCGA) dataset. Then, the Kaplan-Meier analysis was used to filter out the survival-related eQTL target genes of CRC patients in two public datasets (TCGA and GSE39582 dataset from the Gene Expression Omnibus database). The seven most potentially functional eQTL single nucleotide polymorphisms (SNPs) associated with six survival-related eQTL target genes were genotyped in 907 Chinese CRC patients with clinical prognosis data. The regulatory mechanism of the survival-related SNP was further confirmed by functional experiments.\nRESULTS: The rs71630754 regulating the expression of endoplasmic reticulum aminopeptidase 1 ( ERAP1 ) was significantly associated with the prognosis of CRC (additive model, hazard ratio [HR]: 1.43, 95% confidence interval [CI]: 1.08-1.88, P = 0.012). The results of dual-luciferase reporter assay and electrophoretic mobility shift assay showed that the A allele of the rs71630754 could increase the binding of transcription factor 3 (TCF3) and subsequently reduce the expression of ERAP1 . The results of bioinformatic analysis showed that lower expression of ERAP1 could affect the tumor immune microenvironment and was significantly associated with severe survival outcomes.\nCONCLUSION: The rs71630754 could influence the prognosis of CRC patients by regulating the expression of the immune-related gene ERAP1 .\nTRIAL REGISTRATION: No. NCT00454519 ( https://clinicaltrials.gov/ ).", "claims": [{"id": "claim-method", "statement": "To measure the effects of SNPs on the OS of CRC patients, Cox proportional hazard model was used to calculate the hazard ratio (HR) and 95% confidence interval (CI) under an additive genetic model, with the adjustment of age, gender and tumor stage.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:37690994", "locator": "sections[13] \"Statistical analysis\" paragraph 2", "quote": "To measure the effects of SNPs on the OS of CRC patients, Cox proportional hazard model was used to calculate the hazard ratio (HR) and 95% confidence interval (CI) under an additive genetic model, with the adjustment of age, gender and tumor stage."}], "state": "complete"}, {"id": "claim-data-access", "statement": "We downloaded the germline genotype, copy number variation (CNV), CpG methylation, and mRNA expression data of colon adenocarcinoma and rectum adenocarcinoma from The Cancer Genome Atlas (TCGA) data portal (https://tcga-data.nci.nih.gov/tcga/).", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:37690994", "locator": "sections[3] \"Genome-wide eQTL analysis in CRC\" paragraph 2", "quote": "We downloaded the germline genotype, copy number variation (CNV), CpG methylation, and mRNA expression data of colon adenocarcinoma and rectum adenocarcinoma from The Cancer Genome Atlas (TCGA) data portal (https://tcga-data.nci.nih.gov/tcga/)."}], "state": "complete"}, {"id": "claim-target-result", "statement": "The rs71630754 regulating the expression of endoplasmic reticulum aminopeptidase 1 (ERAP1) was significantly associated with the prognosis of CRC (additive model, hazard ratio [HR]: 1.43, 95% confidence interval [CI]: 1.08–1.88, P = 0.012).", "kind": "quantitative", "target": {"value": 95.0, "unit": "per cent", "tolerance": null, "source": "The rs71630754 regulating the expression of endoplasmic reticulum aminopeptidase 1 (ERAP1) was significantly associated with the prognosis of CRC (additive model, hazard ratio [HR]: 1.43, 95% confidence interval [CI]: 1.08–1.88, P = 0.012)."}, "evidence": [{"asset": "source:pmid:37690994", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "The rs71630754 regulating the expression of endoplasmic reticulum aminopeptidase 1 (ERAP1) was significantly associated with the prognosis of CRC (additive model, hazard ratio [HR]: 1.43, 95% confidence interval [CI]: 1.08–1.88, P = 0.012)."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "The rs71630754 regulating the expression of endoplasmic reticulum aminopeptidase 1 (ERAP1) was significantly associated with the prognosis of CRC (additive model, hazard ratio [HR]: 1.43, 95% confidence interval [CI]: 1.08–1.88, P = 0.012).", "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:37690994"], "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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