Gender-specific SBNO2 and VPS13B as a potential driver of osteoporosis development in male ankylosing spondylitis

Li, T.; Liu, W.-B.; Tian, Fenghua; Jiang, Jinmai; Wang, Q.; Hu, Fanqi; Hu, Wei; Zhang, X.-S.

doi:10.1007/s00198-020-05593-9

Cited by 4 publications

(1 citation statement)

References 24 publications

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“…Variants located in proximity to the SBNO2 ISO1 TSS associated with changes in HBMD, which may relate to SBNO2’s role in regulating osteoblast and osteoclast function. Indeed, increased expression of SBNO2 has been found in male ankylosing spondylitis associated osteoporosis 49 . Previous studies performed in Sbno2 knockout mice have revealed a regulatory function in osteoclast differentiation 16 and knockdown and ectopic expression experiments presented in this study support a role for SBNO2 in the regulation of human osteoclast multinucleation and differentiation and support evolutionary conserved functions of SBNO2 in normal bone development.…”

Section: Discussionmentioning

confidence: 99%

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

Aschenbrenner,

Nassiri,

Venkateswaran

et al. 2024

Nat Commun

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Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poorly investigated. Strawberry notch homolog 2 (SBNO2) is a candidate gene in a susceptibility locus with different variants associated with Crohn’s disease and bone mineral density. The SBNO2 locus is also differentially methylated in Crohn’s disease but the functional mechanisms are unknown. Here we show that the isoforms of SBNO2 are differentially regulated by lipopolysaccharide and IL-10. We identify Crohn’s disease associated isoform quantitative trait loci that negatively regulate the expression of the noncanonical isoform 2 corresponding with the methylation signals at the isoform 2 promoter in IBD and CD. The two isoforms of SBNO2 drive differential gene networks with isoform 2 dominantly impacting antimicrobial activity in macrophages. Our data highlight the role of isoform quantitative trait loci to understand disease susceptibility and resolve underlying mechanisms of disease.

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Section: Discussionmentioning

confidence: 99%

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

Aschenbrenner,

Nassiri,

Venkateswaran

et al. 2024

Nat Commun

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Bidirectional relationship between temporomandibular disorder and ankylosing spondylitis: a population-based cohort study

et al. 2021

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Identification of Key Genes and Underlying Mechanisms in Cystic Fibrosis and its Associated Complications Based on Bioinformatics Analysis of Next Generation Sequencing Data Analysis

Vastrad¹,

Vastrad²

2022

Preprint

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Cystic fibrosis (CF) is one of the inherited autosomal recessive disorders with very complicated pathogenesis. Identifying the molecular signatures and specific biomarkers of CF might provide novel clues for CF and and CF associated complications prognosis and targeted therapy. Based on the nexgeneration sequencing (NGS) dataset GSE136371 downloaded from the Gene Expression Omnibus (GEO) database, the differentially expressed genes (DEGs) between CF samples and normal controls were identified by using DESeq2 bioconductor package of R software. Gene ontology (GO) and REACTOME pathway enrichment analyses were applied for the DEGs. Then protein-protein interaction (PPI) network of these DEGs was visualized by Cytoscape with IMEx interactome database. The most significant module from the PPI network was selected for GO and pathway enrichment analysis. Subsequently, a miRNA-hub gene regulatory network and TF-hub gene regulatory network were constructed to identify hub genes, miRNAs and TFs. Finally, receiver operating characteristic curve (ROC) analysis was established to validate these hub genes. Total of 917 DEGs were identified between CF and normal control samples in GSE136371 dataset, including 479 up regulated and 438 down regulated genes. The most enriched DEGs in GO and pathway enrichment analysis were mainly associated with response to stimulus, regulation of cellular process, Neutrophil degranulation and rRNA processing. PPI network, module analysis, miRNA-hub gene regulatory network and TF-hub gene regulatory network predicted ten hub genes (FN1, UBE2D1, SRPK1, MAPK14, CEBPB, HSP90AB1, HSPA8, XRCC6, NCL and PARP1). In conclusion, the DEGs, relative pathways and hub genes identified in the present study might aid in understanding of the molecular mechanisms underlying CF and CF associated complications progression and provide potential molecular targets and biomarkers for CF and CF associated complications.

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Gender-specific SBNO2 and VPS13B as a potential driver of osteoporosis development in male ankylosing spondylitis

Cited by 4 publications

References 24 publications

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

Bidirectional relationship between temporomandibular disorder and ankylosing spondylitis: a population-based cohort study

Identification of Key Genes and Underlying Mechanisms in Cystic Fibrosis and its Associated Complications Based on Bioinformatics Analysis of Next Generation Sequencing Data Analysis

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