Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study

Background: Increasing evidence suggests that immunophenotypes play a crucial role in Metabolic dysfunction-associated fatty liver disease (MAFLD), but the specific immunophenotypes contributing to its pathogenesis remain unclear. Objectives: This study aimed to elucidate the causal associations bet...

Full description

Saved in:
Bibliographic Details
Main Authors: Kexin Xie, Ming Chen, Hongjin An, Jinhang Gao, Chengwei Tang, Zhiyin Huang
Format: Article
Language:English
Published: SAGE Publishing 2024-12-01
Series:Therapeutic Advances in Chronic Disease
Online Access:https://doi.org/10.1177/20406223241303649
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1846126859582963712
author Kexin Xie
Ming Chen
Hongjin An
Jinhang Gao
Chengwei Tang
Zhiyin Huang
author_facet Kexin Xie
Ming Chen
Hongjin An
Jinhang Gao
Chengwei Tang
Zhiyin Huang
author_sort Kexin Xie
collection DOAJ
description Background: Increasing evidence suggests that immunophenotypes play a crucial role in Metabolic dysfunction-associated fatty liver disease (MAFLD), but the specific immunophenotypes contributing to its pathogenesis remain unclear. Objectives: This study aimed to elucidate the causal associations between immunophenotypes and MAFLD and identify the underlying mediation pathways involved. Design: Mendelian randomization (MR) study. Methods: This study is a quasi-causal inference analysis using univariable and multivariable MR (UVMR and MVMR). Five MAFLD genome-wide association studies (GWASs) and the largest immunophenotype GWAS were analyzed to assess their causal associations. Two-step MR identified potential mediators and quantified their mediation proportions. Comprehensive MR methods, multiple sensitivity analyses, meta-analyses, and false discovery rate (FDR) further enhanced the robustness of our findings. Results: Pooled inverse-variance weighted (IVW) estimates in UVMR identified 47 immunophenotypes having a suggestive causal association with MAFLD. After adjusting for FDR, three lymphocyte phenotypes remained significant: CD20 on IgD − CD24 − B cells (OR: 1.035, p fdr : 0.006), terminally differentiated CD8 + T cells %T cells (OR: 1.052, p fdr : 0.006), and CD4 on CD39 + secreting CD4 + regulatory T cells (OR: 1.036, p fdr : 0.046). Meta-analysis of IVW MVMR estimates with confounders adjustment confirmed that CD20 on IgD − CD24 − B cells and terminally differentiated CD8 + T cells %T cells had significant direct causal associations on MAFLD ( p fdr  < 0.05). Additionally, two-step MR analysis identified the waist-to-hip ratio as a mediator, accounting for 42.64% of the causal association between CD20 on IgD − CD24 − B cells and MAFLD. Conclusion: The causal associations of three lymphocyte phenotypes with increased MAFLD risk were identified in this study. CD20 on IgD − CD24 − B cells may both directly and indirectly elevate MAFLD risk, while terminally differentiated CD8 + T cells have a direct causal relationship with MAFLD. These findings suggest new possibilities for targeted therapies and underscore the potential for personalized immunotherapy in managing MAFLD.
format Article
id doaj-art-4fbf4c803b8140ee9c072d434debef21
institution Kabale University
issn 2040-6231
language English
publishDate 2024-12-01
publisher SAGE Publishing
record_format Article
series Therapeutic Advances in Chronic Disease
spelling doaj-art-4fbf4c803b8140ee9c072d434debef212024-12-12T08:03:31ZengSAGE PublishingTherapeutic Advances in Chronic Disease2040-62312024-12-011510.1177/20406223241303649Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization studyKexin XieMing ChenHongjin AnJinhang GaoChengwei TangZhiyin HuangBackground: Increasing evidence suggests that immunophenotypes play a crucial role in Metabolic dysfunction-associated fatty liver disease (MAFLD), but the specific immunophenotypes contributing to its pathogenesis remain unclear. Objectives: This study aimed to elucidate the causal associations between immunophenotypes and MAFLD and identify the underlying mediation pathways involved. Design: Mendelian randomization (MR) study. Methods: This study is a quasi-causal inference analysis using univariable and multivariable MR (UVMR and MVMR). Five MAFLD genome-wide association studies (GWASs) and the largest immunophenotype GWAS were analyzed to assess their causal associations. Two-step MR identified potential mediators and quantified their mediation proportions. Comprehensive MR methods, multiple sensitivity analyses, meta-analyses, and false discovery rate (FDR) further enhanced the robustness of our findings. Results: Pooled inverse-variance weighted (IVW) estimates in UVMR identified 47 immunophenotypes having a suggestive causal association with MAFLD. After adjusting for FDR, three lymphocyte phenotypes remained significant: CD20 on IgD − CD24 − B cells (OR: 1.035, p fdr : 0.006), terminally differentiated CD8 + T cells %T cells (OR: 1.052, p fdr : 0.006), and CD4 on CD39 + secreting CD4 + regulatory T cells (OR: 1.036, p fdr : 0.046). Meta-analysis of IVW MVMR estimates with confounders adjustment confirmed that CD20 on IgD − CD24 − B cells and terminally differentiated CD8 + T cells %T cells had significant direct causal associations on MAFLD ( p fdr  < 0.05). Additionally, two-step MR analysis identified the waist-to-hip ratio as a mediator, accounting for 42.64% of the causal association between CD20 on IgD − CD24 − B cells and MAFLD. Conclusion: The causal associations of three lymphocyte phenotypes with increased MAFLD risk were identified in this study. CD20 on IgD − CD24 − B cells may both directly and indirectly elevate MAFLD risk, while terminally differentiated CD8 + T cells have a direct causal relationship with MAFLD. These findings suggest new possibilities for targeted therapies and underscore the potential for personalized immunotherapy in managing MAFLD.https://doi.org/10.1177/20406223241303649
spellingShingle Kexin Xie
Ming Chen
Hongjin An
Jinhang Gao
Chengwei Tang
Zhiyin Huang
Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study
Therapeutic Advances in Chronic Disease
title Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study
title_full Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study
title_fullStr Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study
title_full_unstemmed Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study
title_short Causal associations of immunophenotypes with metabolic dysfunction-associated fatty liver disease and mediating pathways: a Mendelian randomization study
title_sort causal associations of immunophenotypes with metabolic dysfunction associated fatty liver disease and mediating pathways a mendelian randomization study
url https://doi.org/10.1177/20406223241303649
work_keys_str_mv AT kexinxie causalassociationsofimmunophenotypeswithmetabolicdysfunctionassociatedfattyliverdiseaseandmediatingpathwaysamendelianrandomizationstudy
AT mingchen causalassociationsofimmunophenotypeswithmetabolicdysfunctionassociatedfattyliverdiseaseandmediatingpathwaysamendelianrandomizationstudy
AT hongjinan causalassociationsofimmunophenotypeswithmetabolicdysfunctionassociatedfattyliverdiseaseandmediatingpathwaysamendelianrandomizationstudy
AT jinhanggao causalassociationsofimmunophenotypeswithmetabolicdysfunctionassociatedfattyliverdiseaseandmediatingpathwaysamendelianrandomizationstudy
AT chengweitang causalassociationsofimmunophenotypeswithmetabolicdysfunctionassociatedfattyliverdiseaseandmediatingpathwaysamendelianrandomizationstudy
AT zhiyinhuang causalassociationsofimmunophenotypeswithmetabolicdysfunctionassociatedfattyliverdiseaseandmediatingpathwaysamendelianrandomizationstudy