Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review

Deng, Yan; Zhu, Weixing; Zhou, Xiaodong

doi:10.2174/1874312901812010070

Cited by 28 publications

(27 citation statements)

References 125 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This has been discussed in several reviews ( 2 , 4 , 19 – 21 ). In short, ERAP1 is associated with birdshot chorioretinopathy ( 22 ), ankylosing spondylitis ( 23 – 26 ) psoriasis and Behçet's disease ( 27 ) in individuals carrying the corresponding HLA-I susceptibility alleles. Interestingly, while ERAP1 haplotypes determining a higher expression associate with the first three diseases, Behçet's risk alleles induce a lower ERAP1 expression ( 28 ).…”

Section: Disease Associationsmentioning

confidence: 99%

The Multifaceted Nature of Aminopeptidases ERAP1, ERAP2, and LNPEP: From Evolution to Disease

et al. 2020

View full text Add to dashboard Cite

In the human genome, the aminopeptidases ERAP1, ERAP2 and LNPEP lie contiguously on chromosome 5. They share sequence homology, functions and associations with immune-mediated diseases. By analyzing their multifaceted activities as well as their expression in the zoological scale, we suggest here that the progenitor of the three aminopeptidases might be LNPEP from which the other two aminopeptidases could have derived by gene duplications. We also propose that their functions are partially redundant. More precisely, the evolutionary story of the three aminopeptidases might have been dictated by their role in regulating the renin–angiotensin system, which requires their controlled and coordinated expression. This hypothesis is supported by the many species that lack one or the other gene as well as by the lack of ERAP2 in rodents and a null expression in 25% of humans. Finally, we speculate that their role in antigen presentation has been acquired later on during evolution. They have therefore been diversified between those residing in the ER, ERAP1 and ERAP2, whose role is to refine the MHC-I peptidomes, and LNPEP, mostly present in the endosomal vesicles where it can contribute to antigen cross-presentation or move to the cell membrane as receptor for angiotensin IV. Their association with autoinflammatory/autoimmune diseases can therefore be two-fold: as “contributors” to the shaping of the immune-peptidomes as well as to the regulation of the vascular response.

show abstract

Section: Disease Associationsmentioning

confidence: 99%

The Multifaceted Nature of Aminopeptidases ERAP1, ERAP2, and LNPEP: From Evolution to Disease

et al. 2020

View full text Add to dashboard Cite

show abstract

“…CCAAT enhancer binding protein beta (CEBPB) has been identified as an epigenetic regulator of a mesenchymal signature. CEBPB also has important roles in inflammation, cell differentiation, and cell proliferation [34,35]. In a subset of tumors, abnormal expression and/or methylation of BASP1 and CEBPB have been closely related to occurrence and prognosis.…”

Section: Discussionmentioning

confidence: 99%

Weighted gene co-expression network analysis identified six hub genes associated with rupture of intracranial aneurysms

et al. 2020

View full text Add to dashboard Cite

Intracranial aneurysms (IAs) are characterized by localized dilation or ballooning of a cerebral artery. When IAs rupture, blood leaks into the space around the brain to create a subarachnoid hemorrhage. The latter is associated with a higher risk of disability and mortality. The aims of this study were to gain greater insight into the pathogenesis of ruptured IAs, and to clarify whether identified hub genes represent potential biological markers for assessing the likelihood of IA progression and rupture. Briefly, the GSE36791 and GSE73378 datasets from the National Center of Biotechnology Information Gene Expression Omnibus database were reanalyzed and subjected to a weighted gene co-expression network analysis to test the association between gene sets and clinical features. The clinical significance of these genes as potential biomarkers was also examined, with their expression validated by quantitative real-time PCR. A total of 14 co-expression modules and 238 hub genes were identified. In particular, three modules (labeled turquoise, blue, and brown) were found to highly correlate with IA rupture events. Additionally, six potential biomarkers were identified (BASP1, CEBPB, ECHDC2, GZMK, KLHL3, and SLC2A3), which are strongly associated with the progression and rupture of IAs. Taken together, these findings provide novel insights into potential molecular mechanisms responsible for IAs and they highlight the potential for these particular genes to serve as biomarkers for monitoring IA rupture.

show abstract

“…Classic BD is a complex disease with a strong genetic predisposition. Although the etiology of BD remains unclear, recent immunogenetic findings from GWAS provide clues to its pathogenesis (53,54).…”

Section: Behçet's Diseasementioning

confidence: 99%

Current State of Precision Medicine in Primary Systemic Vasculitides

et al. 2019

View full text Add to dashboard Cite

Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review

Cited by 28 publications

References 125 publications

The Multifaceted Nature of Aminopeptidases ERAP1, ERAP2, and LNPEP: From Evolution to Disease

The Multifaceted Nature of Aminopeptidases ERAP1, ERAP2, and LNPEP: From Evolution to Disease

Weighted gene co-expression network analysis identified six hub genes associated with rupture of intracranial aneurysms

Current State of Precision Medicine in Primary Systemic Vasculitides

Contact Info

Product

Resources

About