journal article·2026-03Open access

Mendelian Randomization and Double Machine Learning Modeling Reveal Brain Imaging‐Derived Phenotypes as Functional Contributors to 18 Autoimmune Inflammatory Diseases

Jinbin Chen, Xin Wang, Haifeng Ding, Bosheng Zheng, Keni Zeng, Chuying Hu, Jiayi Liu, Xiao Zhu, Haibing Yu

Advanced Science· Volume 13· Issue 14

Abstract

ABSTRACT Autoimmune inflammatory diseases (AIDs) are genetically linked disorders with unclear causal links to brain functional networks. Using bidirectional two‐sample Mendelian randomization (MR) on GWAS data from 18 AIDs and 1,366 brain imaging‐derived phenotypes ( n = 8,428), we identified significant associations, including reduced left striatal activity increasing multiple sclerosis risk (OR = 0.59), left uncinate fasciculus activity elevating systemic lupus erythematosus risk (OR = 3.72), and asymmetric cerebellar peduncle effects in cutaneous vasculitis (left: OR = 0.11; right: OR = 8.57) [exploratory finding with 24.8%–37.8% power]. Fibromyalgia suppressed cerebellar area VIIIa (β = −0.023). Sensitivity analyses, double machine learning, and >99% statistical power supported robustness. These findings suggest alterations in default mode, salience, and central executive networks contribute to AIDs pathogenesis, highlighting brain regions such as the striatum and cerebellar peduncles as potential therapeutic targets.
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Research context

OpenAlex topics: Systemic Lupus Erythematosus Research · Fibromyalgia and Chronic Fatigue Syndrome Research · Genetic Associations and Epidemiology

SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.

Affiliations

Dongguan Key Laboratory of Chronic Disease Prevention and Control The First Dongguan Affiliated Hospital School of Public Health Guangdong Medical University Dongguan Guangdong China

Affiliated Hospital Group of Guangdong Medical University, Shenzhen Baoan Central Hospital (Baoan Central Hospital of Shenzhen) Shenzhen Guangdong China

The First Dongguan Affiliated Hospital of Guangdong Medical University Dongguan Guangdong China

The Second Affiliated Hospital of Guangdong Medical University School of Ocean and Tropical Medicine Guangdong Medical University Zhanjiang Guangdong China

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