Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population

Simsek, Hasan; Geckin, Hikmet; Sensöz, Nilay Padir; List, Edward O.; Arman, Ahmet

doi:10.1007/s12031-018-1205-0

Cited by 3 publications

(2 citation statements)

References 52 publications

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“…IL7R widely express in immunity system and play critical roles in immune cell development and immune system homeostasis. Studies showed that the IL7R allele polymorphism was associated with an increased risk of multiple sclerosis (MS) [ 31 ], and there was a significant association between the IL7R promoter polymorphisms and the age of onset of MS [ 32 ]. Furthermore, the latest evidence shows that the lymphoid-associated interleukin 7 receptor (IL7R) regulates tissue-resident macrophage development [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

Identifying the pattern of immune related cells and genes in the peripheral blood of ischemic stroke

Cui

Feng

et al. 2020

J Transl Med

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Background Ischemic stroke (IS) is the second leading cause of death worldwide which is a serious hazard to human health. Evidence suggests that the immune system plays a key role in the pathophysiology of IS. However, the precisely immune related mechanisms were still not been systematically understood. Methods In this study, we aim to identify the immune related modules and genes that might play vital role in the occurrence and development of IS by using the weighted gene co-expression network analysis (WGCNA). Meanwhile, we applied a kind of deconvolution algorithm to reveal the proportions of 22 subsets of immune cells in the blood samples. Results There were total 128 IS patients and 67 healthy control samples in the three Gene Expression Omnibus (GEO) datasets. Under the screening criteria, 1082 DEGs (894 up-regulated and 188 down-regulated) were chosen for further analysis. A total of 11 clinically significant modules were identified, from which immune-related hub modules and hub genes were further explored. Finally, 16 genes were selected as real hub genes for further validation analysis. Furthermore, these CIBERSORT results suggest that detailed analysis of the immune subtype distribution pattern has the potential to enhance clinical prediction and to identify candidates for immunotherapy. More specifically, we identified that neutrophil emerge as a promising target for IS therapies. Conclusions In the present study, we investigated the immune related gene expression modules, in which the SLAMF1, IL7R and NCF4 may be novel therapeutic targets to promote functional and histological recovery after ischemic stroke. Furthermore, these hub genes and neutrophils may become important biological targets in the drug screening and drug designing.

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Section: Discussionmentioning

confidence: 99%

Identifying the pattern of immune related cells and genes in the peripheral blood of ischemic stroke

Cui

Feng

et al. 2020

J Transl Med

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“…IL1RAPL2 [147], GAD1 [148], EPHA5 [149], HTR1A [150], CADPS (calcium dependent secretion activator) [151], GABRG3 [152], LRFN5 [153] and CXCR1 [154] are expressed in autism spectrum disorders, but these genes might be novel target for AD. GAD2 [155], TAC3 [156], NCR1 [157], IL7R [158], GATA3 [159], FCRL3 [160] and IL18R1 [161] have been reported as most promising biomarkers for early diagnosis and prognosis prediction of multiple sclerosis, but these genes might be novel target for AD. FLT3 [162], CHRNB4 [163], PAK1 [164], CHRNB3 [165], GRIN2A [166], CHRNA6 [167], PENK (proenkephalin) [168], CHRNB4 [169], IGF2 [170], TLR9 [171] and CACNG5 [172] were revealed to serve an important role in Parkinson’s disease, but these genes might be novel target for AD.…”

Section: Discussionmentioning

confidence: 99%

Bioinformatics analyses of significant genes, related pathways and candidate prognostic biomarkers in Alzheimer’s disease

Bm¹,

Cm²

2021

Preprint

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Alzheimers disease (AD) is one of the most common causes of dementia and frailty. This study aimed to use bioinformatics analysis to identify differentially expressed genes (DEGs) in AD. The Expression profiling by high throughput sequencing dataset GSE125583 was downloaded from the Gene Expression Omnibus (GEO) database and DEGs were identified. After assessment of Gene Ontology (GO) terms and pathway enrichment for DEGs, a protein protein interaction (PPI) network, module analysis, miRNA hub gene regulatory network construction and TF hub gene regulatory network were conducted via comprehensive target prediction and network analyses. Finally, we validated hub genes by receiver operating characteristic curve (ROC) and RT-PCR. In total, 956 DEGs were identified in the AD samples, including 479 up regulated genes and 477 down regulated genes. Functional enrichment analysis showed that these DEGs are mainly involved in the neuronal system, GPCR ligand binding, regulation of biological quality and cell communication. The hub genes of PAK1, ELAVL2, NSF, HTR2C, TERT, UBD, MKI67, HSPB1, PYHIN1 and TES might be associated with AD. The diagnostic value and expression levels of these hub genes in AD were further confirmed by ROC analysis and RT-PCR. In conclusion, we identified pathways and crucial candidate genes that affect the outcomes of patients with AD, and these genes might serve as potential therapeutic targets.

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MSGD: a manually curated database of genomic, transcriptomic, proteomic and drug information for multiple sclerosis

Wu,

Hou,

Xin

et al. 2024

Database

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Multiple sclerosis (MS) is the most common inflammatory demyelinating disease of the central nervous system. ‘Omics’ technologies (genomics, transcriptomics, proteomics) and associated drug information have begun reshaping our understanding of multiple sclerosis. However, these data are scattered across numerous references, making them challenging to fully utilize. We manually mined and compiled these data within the Multiple Sclerosis Gene Database (MSGD) database, intending to continue updating it in the future. We screened 5485 publications and constructed the current version of MSGD. MSGD comprises 6255 entries, including 3274 variant entries, 1175 RNA entries, 418 protein entries, 313 knockout entries, 612 drug entries and 463 high-throughput entries. Each entry contains detailed information, such as species, disease type, detailed gene descriptions (such as official gene symbols), and original references. MSGD is freely accessible and provides a user-friendly web interface. Users can easily search for genes of interest, view their expression patterns and detailed information, manage gene sets and submit new MS-gene associations through the platform. The primary principle behind MSGD’s design is to provide an exploratory platform, aiming to minimize filtration and interpretation barriers while ensuring highly accessible presentation of data. This initiative is expected to significantly assist researchers in deciphering gene mechanisms and improving the prevention, diagnosis and treatment of MS. Database URL: http://bio-bigdata.hrbmu.edu.cn/MSGD

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Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population

Cited by 3 publications

References 52 publications

Identifying the pattern of immune related cells and genes in the peripheral blood of ischemic stroke

Identifying the pattern of immune related cells and genes in the peripheral blood of ischemic stroke

Bioinformatics analyses of significant genes, related pathways and candidate prognostic biomarkers in Alzheimer’s disease

MSGD: a manually curated database of genomic, transcriptomic, proteomic and drug information for multiple sclerosis

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