Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study

Abstract Background This Mendelian randomization (MR) study aimed to investigate bidirectional causal relationships between genetically predicted iron homeostasis, mitochondrial function, and the risk of laryngeal and hypopharyngeal cancers. Methods Summary-level data were extracted from genome-wide...

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Main Authors: Jiandong Zhao, Liwei Chen, Bing Han, Siyang Li, Yongxia Zhang, Ge Gao, Jinjing Liu
Format: Article
Language:English
Published: Springer 2025-07-01
Series:Discover Oncology
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Online Access:https://doi.org/10.1007/s12672-025-03187-7
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author Jiandong Zhao
Liwei Chen
Bing Han
Siyang Li
Yongxia Zhang
Ge Gao
Jinjing Liu
author_facet Jiandong Zhao
Liwei Chen
Bing Han
Siyang Li
Yongxia Zhang
Ge Gao
Jinjing Liu
author_sort Jiandong Zhao
collection DOAJ
description Abstract Background This Mendelian randomization (MR) study aimed to investigate bidirectional causal relationships between genetically predicted iron homeostasis, mitochondrial function, and the risk of laryngeal and hypopharyngeal cancers. Methods Summary-level data were extracted from genome-wide association studies (GWAS) of iron status, mitochondrial function, laryngeal and hypopharyngeal cancers were analyzed. Two-sample MR analyses were performed using inverse variance weighted (IVW), weighted median, weighted mode, and MR-Egger regression. Sensitivity analyses incorporated MR-Egger intercept, MR-Pleiotropy RESidual Sum and Outlier (MR-PRESSO), Cochran’s Q test, and leave-one-out validation. Results MR analysis identified a significant association between the mitochondrial sirtuin-5 (NAD-dependent protein deacylase) and the elevated risk of hypopharyngeal cancer (OR = 2, 95% CI: 1.06–3.76, P = 0.03). Reverse MR analyses demonstrated that larynx cancer inversely correlated with transferrin saturation (OR = 0.992, 95% CI: 0.987–0.998, P < 0.001) and persulfide dioxygenase ETHE1 (OR = 0.95, 95% CI: 0.92–0.98, P < 0.001). In addition, no causal effect of iron status on the risk of laryngeal and hypopharyngeal cancers (All P > 0.05). Sensitivity analyses confirmed results robustness with no evidence of pleiotropy and heterogeneity. Conclusion Our findings reveal a novel pathogenic role of sirtuin-5 in hypopharyngeal cancer, suggesting its potential as a therapeutic target. Conversely, laryngeal cancer might slightly affect transferrin saturation and ETHE1, indicating their utility as diagnostic markers for laryngeal cancer. Future mechanistic studies are warranted to elucidate these complex associations.
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spelling doaj-art-754f296d597c4e4c82c8f591e27aa4862025-08-20T04:02:54ZengSpringerDiscover Oncology2730-60112025-07-0116111810.1007/s12672-025-03187-7Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian studyJiandong Zhao0Liwei Chen1Bing Han2Siyang Li3Yongxia Zhang4Ge Gao5Jinjing Liu6Senior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalSenior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalSenior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalSenior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalSenior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalSenior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalSenior Department of Otolaryngologeal Head and Neck Surgery, The 6th Medical Center of Chinese PLA General HospitalAbstract Background This Mendelian randomization (MR) study aimed to investigate bidirectional causal relationships between genetically predicted iron homeostasis, mitochondrial function, and the risk of laryngeal and hypopharyngeal cancers. Methods Summary-level data were extracted from genome-wide association studies (GWAS) of iron status, mitochondrial function, laryngeal and hypopharyngeal cancers were analyzed. Two-sample MR analyses were performed using inverse variance weighted (IVW), weighted median, weighted mode, and MR-Egger regression. Sensitivity analyses incorporated MR-Egger intercept, MR-Pleiotropy RESidual Sum and Outlier (MR-PRESSO), Cochran’s Q test, and leave-one-out validation. Results MR analysis identified a significant association between the mitochondrial sirtuin-5 (NAD-dependent protein deacylase) and the elevated risk of hypopharyngeal cancer (OR = 2, 95% CI: 1.06–3.76, P = 0.03). Reverse MR analyses demonstrated that larynx cancer inversely correlated with transferrin saturation (OR = 0.992, 95% CI: 0.987–0.998, P < 0.001) and persulfide dioxygenase ETHE1 (OR = 0.95, 95% CI: 0.92–0.98, P < 0.001). In addition, no causal effect of iron status on the risk of laryngeal and hypopharyngeal cancers (All P > 0.05). Sensitivity analyses confirmed results robustness with no evidence of pleiotropy and heterogeneity. Conclusion Our findings reveal a novel pathogenic role of sirtuin-5 in hypopharyngeal cancer, suggesting its potential as a therapeutic target. Conversely, laryngeal cancer might slightly affect transferrin saturation and ETHE1, indicating their utility as diagnostic markers for laryngeal cancer. Future mechanistic studies are warranted to elucidate these complex associations.https://doi.org/10.1007/s12672-025-03187-7Mendelian randomizationIron metabolismMitochondrial functionLaryngeal cancerHypopharyngeal cancerSirtuin-5
spellingShingle Jiandong Zhao
Liwei Chen
Bing Han
Siyang Li
Yongxia Zhang
Ge Gao
Jinjing Liu
Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
Discover Oncology
Mendelian randomization
Iron metabolism
Mitochondrial function
Laryngeal cancer
Hypopharyngeal cancer
Sirtuin-5
title Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
title_full Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
title_fullStr Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
title_full_unstemmed Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
title_short Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
title_sort causal links between iron status mitochondrial function and laryngeal and hypopharyngeal cancers a mendelian study
topic Mendelian randomization
Iron metabolism
Mitochondrial function
Laryngeal cancer
Hypopharyngeal cancer
Sirtuin-5
url https://doi.org/10.1007/s12672-025-03187-7
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