Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization

Abstract Altered circulating hormones in ALS patients have been widely reported by previous observational studies, but whether these relationships are causal is unclear. Moreover, the potential therapeutic targets for ALS and the effects of plasma protein fluctuation on ALS progression are not fully...

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Main Authors: Xinyue Fan, Yinting Zeng, Feifei Zhang, Yang Xu, Qixuan Duan, Shuting Long, Yumeng Lin, Kai Wang, Li Jiang
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-95151-2
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author Xinyue Fan
Yinting Zeng
Feifei Zhang
Yang Xu
Qixuan Duan
Shuting Long
Yumeng Lin
Kai Wang
Li Jiang
author_facet Xinyue Fan
Yinting Zeng
Feifei Zhang
Yang Xu
Qixuan Duan
Shuting Long
Yumeng Lin
Kai Wang
Li Jiang
author_sort Xinyue Fan
collection DOAJ
description Abstract Altered circulating hormones in ALS patients have been widely reported by previous observational studies, but whether these relationships are causal is unclear. Moreover, the potential therapeutic targets for ALS and the effects of plasma protein fluctuation on ALS progression are not fully understood. Therefore, we conducted a Mendelian randomization (MR) study to evaluate the causal role of 5 hormonal risk factors (insulin-like growth factor-1, IGF-1; sex hormone-binding globulin, SHBG; free testosterone, FT; total testosterone, TT; and estradiol) in ALS risk. Furthermore, we screened up to 90 circulating proteins including cytokines, chemokines, growth factors, and interferons, to identify potential therapeutic targets for ALS. Our MR analysis found genetically predicted higher level of FT was associated with a 23% lowered risk of ALS. Further screening of proteomic traits found that 12 plasma proteins were causally associated with ALS. These findings suggest that higher FT potentially exerts a protective effect on ALS risk. Several proteins may act as potential circulating biomarkers and therapeutic targets for ALS. In the future, high-throughput proteomic analyses and experimental explorations are likely needed to clarify the regulated role and mechanistic pathways.
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issn 2045-2322
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spelling doaj-art-4d088e654efe46a5880406e698b4daed2025-08-20T03:40:50ZengNature PortfolioScientific Reports2045-23222025-03-011511810.1038/s41598-025-95151-2Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomizationXinyue Fan0Yinting Zeng1Feifei Zhang2Yang Xu3Qixuan Duan4Shuting Long5Yumeng Lin6Kai Wang7Li Jiang8Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityEye Center of Second Affiliated Hospital, School of Medicine, Zhejiang UniversityDepartment of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal UniversityAbstract Altered circulating hormones in ALS patients have been widely reported by previous observational studies, but whether these relationships are causal is unclear. Moreover, the potential therapeutic targets for ALS and the effects of plasma protein fluctuation on ALS progression are not fully understood. Therefore, we conducted a Mendelian randomization (MR) study to evaluate the causal role of 5 hormonal risk factors (insulin-like growth factor-1, IGF-1; sex hormone-binding globulin, SHBG; free testosterone, FT; total testosterone, TT; and estradiol) in ALS risk. Furthermore, we screened up to 90 circulating proteins including cytokines, chemokines, growth factors, and interferons, to identify potential therapeutic targets for ALS. Our MR analysis found genetically predicted higher level of FT was associated with a 23% lowered risk of ALS. Further screening of proteomic traits found that 12 plasma proteins were causally associated with ALS. These findings suggest that higher FT potentially exerts a protective effect on ALS risk. Several proteins may act as potential circulating biomarkers and therapeutic targets for ALS. In the future, high-throughput proteomic analyses and experimental explorations are likely needed to clarify the regulated role and mechanistic pathways.https://doi.org/10.1038/s41598-025-95151-2Amyotrophic lateral sclerosisHormoneFree testosteroneProteomeCytokineInflammation
spellingShingle Xinyue Fan
Yinting Zeng
Feifei Zhang
Yang Xu
Qixuan Duan
Shuting Long
Yumeng Lin
Kai Wang
Li Jiang
Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization
Scientific Reports
Amyotrophic lateral sclerosis
Hormone
Free testosterone
Proteome
Cytokine
Inflammation
title Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization
title_full Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization
title_fullStr Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization
title_full_unstemmed Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization
title_short Genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by Mendelian randomization
title_sort genetic effects of circulating hormone and proteome on amyotrophic lateral sclerosis identified by mendelian randomization
topic Amyotrophic lateral sclerosis
Hormone
Free testosterone
Proteome
Cytokine
Inflammation
url https://doi.org/10.1038/s41598-025-95151-2
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