Underlying effect of SMAD4 gene polymorphism on risk prediction of papillary thyroid carcinoma in Chinese population.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:38596142", "kind": "science-record", "revision": 4, "content_hash": "sha256:82bf761e59b4d7a7e1ac2e6d00726df920bee219f8fe0eb6fb199dbaed479b01", "created_at": "2026-11-01T19:20:33Z", "updated_at": "2026-11-01T22:54:05Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Underlying effect of SMAD4 gene polymorphism on risk prediction of papillary thyroid carcinoma in Chinese population.", "doi": "10.1016/j.heliyon.2024.e28824", "pmid": "38596142", "authors": ["Chao Zuo", "Yi Liu", "Yu Wang", "Ziqiang Wang", "Hongyu Ma", "Feng Wang", "Yongchao Qiao"], "journal": "Heliyon", "year": 2024, "abstract": "Objective: This research intends to explore how variations in the SMAD4 gene impact papillary thyroid carcinoma (PTC) among patients in China.\nMethods: The rs10502913 and rs12968012 polymorphisms were genotyped in 405 subjects using SNP-scan high-throughput technology. Differential mRNA expression of SMAD4 was analyzed using data from TCGA and GSE33630, and protein level expression differences were analyzed using immunohistochemistry.\nResults: The results showed that SMAD4 mRNA expression was lower in thyroid cancer (THCA) tissues than in normal tissues. Immunohistochemical results showed that the expression level of SMAD4 in normal tissue, thyroid papillary carcinoma tissue and poorly differentiated tissue was significantly different. We found that SMAD4 mismatch variants (rs10502913 and rs12968012) were associated with PTC susceptibility. Specifically, the SMAD4-rs10502913 genotypes (GA and AA) showed a notable correlation with a lower likelihood of PTC in comprehensive and segmented studies (genotype GA: OR (95% CI) = 0.270 (0.077-0.950), p = 0.041; genotype AA: OR (95% CI) = 0.103 (0.025-0.416), p = 0.001). We categorized the immunohistochemical results according to genotype and found that rs10502913-GG protein level was expressed at the lowest level, and both GA and AA were higher than GG (GG vs. AA, P < 0.05), and rs12968012-CG protein level was expressed at the lowest level, and both GG and CC were higher than CG (GG vs. CG, P < 0.01).\nConclusion: Two missense variants of SMAD4 (rs10502913 and rs12968012) are associated with reduced risk of papillary thyroid carcinoma, possibly by reducing protein expression leading to susceptibility to papillary thyroid carcinoma.", "claims": [{"id": "claim-method", "statement": "We used the ROC curve to assess the diagnostic potential of SMAD4 expression in THCA.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:38596142", "locator": "sections[10] \"Diagnostic value of SMAD4 expression in THCA\" paragraph 2", "quote": "We used the ROC curve to assess the diagnostic potential of SMAD4 expression in THCA."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The supporting data for this study's conclusions can be obtained from the corresponding author (Yongchao Qiao, qiaoyc@glmc.edu.cn), if requested sensibly.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:38596142", "locator": "sections[19] \"Data availability statement\" paragraph 2", "quote": "The supporting data for this study's conclusions can be obtained from the corresponding author (Yongchao Qiao, qiaoyc@glmc.edu.cn), if requested sensibly."}], "state": "complete"}, {"id": "claim-target-result", "statement": "Findings indicated that SMAD4's area under the curve (AUC) stood at 0.868.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:38596142", "locator": "sections[10] \"Diagnostic value of SMAD4 expression in THCA\" paragraph 2", "quote": "Findings indicated that SMAD4's area under the curve (AUC) stood at 0.868."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "Findings indicated that SMAD4's area under the curve (AUC) stood at 0.868.", "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:38596142"], "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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Results: The results showed that SMAD4 mRNA", "ancer (THCA) tissues than in normal tissues. Immunohistochemical results showed that the expression level of", "0.025-0.416), p = 0.001). We categorized the immunohistochemical results according to genotype and found that", "http://analysis.bio-x.cn/myAnalysis.php).The immunohistochemical analysis employed the Tukey HSD post hoc tes"], "order_basis": "paper_text_order:490", "id": "assay:1"}, {"role": "analysis", "definition_id": "diagnostic_evaluation", "definition_version": "f2132e96ae6c7a4e", "definition_digest": null, "required_operations": ["confusion_counts", "roc_curve", "sensitivity_specificity", "solve_confusion_matrix", "classification_metrics", "published_precision_envelope"], "support_state": "supported", "source_hashes": {"dsl_catalogue": "f2132e96ae6c7a4e"}, "confidence": 1.0, "evidence": ["We used the ROC curve to assess the diagnostic potential of SMAD4 expression in THCA."], "order_basis": "consumes_earlier_output", "id": "assay:2"}]}