Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea

Objective·To elucidate the causal relationship between obstructive sleep apnea (OSA) and imaging-derived phenotypes (IDPs) through two-sample Mendelian randomization (MR) studies.Methods·The genetic data related to OSA were obtained from the genome-wide association study (GWAS) (ncase group=50 200,...

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Main Authors: ZHANG Huihua, GAN Jing, HOU Miaomiao, LU Na
Format: Article
Language:zho
Published: Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) 2025-04-01
Series:Shanghai Jiaotong Daxue xuebao. Yixue ban
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Online Access:https://xuebao.shsmu.edu.cn/article/2025/1674-8115/1674-8115-2025-45-4-468.shtml
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author ZHANG Huihua
GAN Jing
HOU Miaomiao
LU Na
author_facet ZHANG Huihua
GAN Jing
HOU Miaomiao
LU Na
author_sort ZHANG Huihua
collection DOAJ
description Objective·To elucidate the causal relationship between obstructive sleep apnea (OSA) and imaging-derived phenotypes (IDPs) through two-sample Mendelian randomization (MR) studies.Methods·The genetic data related to OSA were obtained from the genome-wide association study (GWAS) (ncase group=50 200, ncontrol group=401 484) in the FinnGen Biobank R11. Twenty-seven single nucleotide polymorphisms (SNPs) were screened out as instrumental variables of OSA. The GWAS of 3 935 IDPs was based on multimodal neuroimaging data from 39 691 individuals of European ancestry in the UK Biobank. Multiple MR methods, primarily utilizing inverse variance weighted (IVW) analysis, were applied, along with assessments for heterogeneity, pleiotropy, and sensitivity.Results·MR analysis indicated that 8 IDPs were associated with OSA. For example, the genetically determined volume of caudal middle frontal gyrus in the right hemisphere was associated with an increased risk of OSA. A one‒standard-deviation increase in volume corresponded to an 11% higher risk of OSA (IVW OR=1.11, 95%CI 1.06‒1.17, P<0.001). Genetically determined reduced risk of OSA was associated with a resting-state functional connectivity characteristic (IVW β=-0.10, 95%CI -0.19‒-0.01, P=0.025), representing the functional connectivity strength between the bilateral frontal poles and the right frontal-parietal cortex. The heterogeneity test did not find significant heterogeneity among the instrumental variables. The pleiotropy test did not detect any pleiotropy. The sensitivity analysis indicated stable results.Conclusion·Eight IDPs may have a causal relationship with the occurrence of OSA, among which one IDP shows a bidirectional causal relationship, providing potential targets for non-invasive neuromodulation interventions in OSA.
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spelling doaj-art-8a214164c46e4635a70e43a0a3c5aacc2025-08-20T03:13:25ZzhoEditorial Office of Journal of Shanghai Jiao Tong University (Medical Science)Shanghai Jiaotong Daxue xuebao. Yixue ban1674-81152025-04-0145446847510.3969/j.issn.1674-8115.2025.04.0091674-8115(2025)04-0468-08Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apneaZHANG Huihua0GAN Jing1HOU Miaomiao2LU Na3Department of Neurology, Xinhua hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, ChinaDepartment of Neurology, Xinhua hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, ChinaDepartment of Neurology, Xinhua hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, ChinaDepartment of Neurology, Xinhua hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, ChinaObjective·To elucidate the causal relationship between obstructive sleep apnea (OSA) and imaging-derived phenotypes (IDPs) through two-sample Mendelian randomization (MR) studies.Methods·The genetic data related to OSA were obtained from the genome-wide association study (GWAS) (ncase group=50 200, ncontrol group=401 484) in the FinnGen Biobank R11. Twenty-seven single nucleotide polymorphisms (SNPs) were screened out as instrumental variables of OSA. The GWAS of 3 935 IDPs was based on multimodal neuroimaging data from 39 691 individuals of European ancestry in the UK Biobank. Multiple MR methods, primarily utilizing inverse variance weighted (IVW) analysis, were applied, along with assessments for heterogeneity, pleiotropy, and sensitivity.Results·MR analysis indicated that 8 IDPs were associated with OSA. For example, the genetically determined volume of caudal middle frontal gyrus in the right hemisphere was associated with an increased risk of OSA. A one‒standard-deviation increase in volume corresponded to an 11% higher risk of OSA (IVW OR=1.11, 95%CI 1.06‒1.17, P<0.001). Genetically determined reduced risk of OSA was associated with a resting-state functional connectivity characteristic (IVW β=-0.10, 95%CI -0.19‒-0.01, P=0.025), representing the functional connectivity strength between the bilateral frontal poles and the right frontal-parietal cortex. The heterogeneity test did not find significant heterogeneity among the instrumental variables. The pleiotropy test did not detect any pleiotropy. The sensitivity analysis indicated stable results.Conclusion·Eight IDPs may have a causal relationship with the occurrence of OSA, among which one IDP shows a bidirectional causal relationship, providing potential targets for non-invasive neuromodulation interventions in OSA.https://xuebao.shsmu.edu.cn/article/2025/1674-8115/1674-8115-2025-45-4-468.shtmlsleep apneamendelian randomization (mr)neuroimaging
spellingShingle ZHANG Huihua
GAN Jing
HOU Miaomiao
LU Na
Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea
Shanghai Jiaotong Daxue xuebao. Yixue ban
sleep apnea
mendelian randomization (mr)
neuroimaging
title Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea
title_full Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea
title_fullStr Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea
title_full_unstemmed Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea
title_short Bidirectional Mendelian randomization study of the relationship between brain imaging-derived phenotypes and obstructive sleep apnea
title_sort bidirectional mendelian randomization study of the relationship between brain imaging derived phenotypes and obstructive sleep apnea
topic sleep apnea
mendelian randomization (mr)
neuroimaging
url https://xuebao.shsmu.edu.cn/article/2025/1674-8115/1674-8115-2025-45-4-468.shtml
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AT ganjing bidirectionalmendelianrandomizationstudyoftherelationshipbetweenbrainimagingderivedphenotypesandobstructivesleepapnea
AT houmiaomiao bidirectionalmendelianrandomizationstudyoftherelationshipbetweenbrainimagingderivedphenotypesandobstructivesleepapnea
AT luna bidirectionalmendelianrandomizationstudyoftherelationshipbetweenbrainimagingderivedphenotypesandobstructivesleepapnea