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Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis.
BMC Med Genomics. 2023 01 27; 16(1):15.BM

Abstract

BACKGROUND

Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease in adults. However, ALS, especially sporadic ALS (sALS), is difficult to diagnose due to the lack of biomarkers.

RESULTS

We used the bioinformatics technology to find the potential biomarker and we found that two hundred seventy-four DEGs were identified and enrichment analysis showed DEGs were involved in nervous system activity, like axon_guidance and the neurotrophin_signaling_pathway. Five nervous system-specific expressed hub genes were further validated by three GEO datasets. APP, LRRK2, and PSEN1 might be potential diagnostic and prognostic biomarkers of sALS, and NEAT1-miR-373-3p/miR-302c-3p/miR-372-3p-APP, circ_0000002-miR-302d-3p/miR-373-3p-APP and XIST-miR-9-5p/miR-30e-5p/miR-671-5p might be potential ceRNA regulatory pathways. APP SNP analysis showed subjects harboring the minor G allele of rs463946, minor G allele of rs466433 and minor C allele of rs364048 had an increased risk of sALS development.

CONCLUSIONS

Our results identified three nervous system-specific expressed hub genes that might be diagnostic and prognostic markers of sALS and APP might be a genetic susceptibility factor contributing to sALS development.

Links

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Authors+Show Affiliations

Liao Y
Department of Neurology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Cai H
Department of Neurosurgery, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Luo F
Cancer Epigenetics Laboratory, Department of Clinical Oncology, State Key Laboratory of Oncology in South China, Sir YK Pao Center for Cancer and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong.
Li D
The First School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Li H
Department of Neurology, Maoming People's Hospital, Maoming, China.
Liao G
Department of Neurology, Maoming People's Hospital, Maoming, China.
Duan J
Eastern Department of Neurology, Guangdong Geriatrics Institute, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China. duanjh888@hotmail.com.
Xu R
Department of Neurology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Clinical College of Nanchang Medical College, Nanchang, China. xurenshi@ncu.edu.cn.
Zhang X
Department of Neurology, Maoming People's Hospital, Maoming, China. xiong715@126.com.

MeSH

AdultHumansAmyotrophic Lateral SclerosisNeurodegenerative DiseasesMicroRNAsBiomarkersComputational Biology

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

36707813

Citation

Liao, Yifu, et al. "Three Nervous System-specific Expressed Genes Are Potential Biomarkers for the Diagnosis of Sporadic Amyotrophic Lateral Sclerosis Through a Bioinformatic Analysis." BMC Medical Genomics, vol. 16, no. 1, 2023, p. 15.
Liao Y, Cai H, Luo F, et al. Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis. BMC Med Genomics. 2023;16(1):15.
Liao, Y., Cai, H., Luo, F., Li, D., Li, H., Liao, G., Duan, J., Xu, R., & Zhang, X. (2023). Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis. BMC Medical Genomics, 16(1), 15. https://doi.org/10.1186/s12920-023-01441-x
Liao Y, et al. Three Nervous System-specific Expressed Genes Are Potential Biomarkers for the Diagnosis of Sporadic Amyotrophic Lateral Sclerosis Through a Bioinformatic Analysis. BMC Med Genomics. 2023 01 27;16(1):15. PubMed PMID: 36707813.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis. AU - Liao,Yifu, AU - Cai,Haiping, AU - Luo,Feifei, AU - Li,Dongcheng, AU - Li,Hao, AU - Liao,Geng, AU - Duan,Jinhai, AU - Xu,Renshi, AU - Zhang,Xiong, Y1 - 2023/01/27/ PY - 2022/09/15/received PY - 2023/01/16/accepted PY - 2023/1/28/entrez PY - 2023/1/29/pubmed PY - 2023/2/1/medline KW - Bioinformatic analysis KW - Biomarker KW - Competitive endogenous RNA KW - Single nucleotide polymorphism KW - Sporadic amyotrophic lateral sclerosis SP - 15 EP - 15 JF - BMC medical genomics JO - BMC Med Genomics VL - 16 IS - 1 N2 - BACKGROUND: Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease in adults. However, ALS, especially sporadic ALS (sALS), is difficult to diagnose due to the lack of biomarkers. RESULTS: We used the bioinformatics technology to find the potential biomarker and we found that two hundred seventy-four DEGs were identified and enrichment analysis showed DEGs were involved in nervous system activity, like axon_guidance and the neurotrophin_signaling_pathway. Five nervous system-specific expressed hub genes were further validated by three GEO datasets. APP, LRRK2, and PSEN1 might be potential diagnostic and prognostic biomarkers of sALS, and NEAT1-miR-373-3p/miR-302c-3p/miR-372-3p-APP, circ_0000002-miR-302d-3p/miR-373-3p-APP and XIST-miR-9-5p/miR-30e-5p/miR-671-5p might be potential ceRNA regulatory pathways. APP SNP analysis showed subjects harboring the minor G allele of rs463946, minor G allele of rs466433 and minor C allele of rs364048 had an increased risk of sALS development. CONCLUSIONS: Our results identified three nervous system-specific expressed hub genes that might be diagnostic and prognostic markers of sALS and APP might be a genetic susceptibility factor contributing to sALS development. SN - 1755-8794 UR - https://www.unboundmedicine.com/medline/citation/36707813/Three_nervous_system_specific_expressed_genes_are_potential_biomarkers_for_the_diagnosis_of_sporadic_amyotrophic_lateral_sclerosis_through_a_bioinformatic_analysis_ DB - PRIME DP - Unbound Medicine ER -