Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort

Howarth, Sophie; Sneddon, Georgina; Allinson, Kathleen R.; Razvi, Salman; Mitchell, Anna L.; Pearce, Simon H. S.

doi:10.1093/ejendo/lvac010

Cited by 3 publications

(2 citation statements)

References 33 publications

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“…The abnormal expression of CCL18 [206], EOMES (eomesodermin) [207], GZMA (granzyme A) [208], HLA-DRB5 [209], GPNMB (glycoprotein nmb) [210], PRPH (peripherin) [211], HGF (hepatocyte growth factor) [212], TTR (transthyretin) [213], VEGFA (vascular endothelial growth factor A) [214], CHI3L1 [215], AATK (apoptosis associated tyrosine kinase) [216], SREBF1 [217], OLIG2 [218], ATF3 [219], NGFR (nerve growth factor receptor) [220], ADAMTS4 [221], LMNA (lamin A/C) [222], MT3 [223], DAO (D-amino acid oxidase) [224], AATK (apoptosis associated tyrosine kinase) [216] and LGALS3BP [225] might be related to the progression of amyotrophic lateral sclerosis. SLAMF7 [226], GPR174 [227], FCRL3 [228], SLAMF6 [229], EOMES (eomesodermin) [230], CCR4 [231], CCR2 [232], CD48 [233], CD3E [234], CCL26 [235], CCL4 [236], SLAMF1 [237], CD24 [238], IKZF3 [239], CD2 [240], CD28 [241], IL7R [242], FCGR2B [243], UBASH3A [244], CD1C [245], ICOS (inducible T cell costimulator) [246], CD3G [247], CCL3 [248], LTF (lactotransferrin) [249], GPNMB (glycoprotein nmb) [250], CTLA4 [251], IRF4 [252], TNFRSF9 [253], FCRL5 [254], LAIR2 [255], TAB2 [256], CD52 [257], CD163 [258], MSR1 [259], HGF (hepatocyte growth factor) [260], SIGLEC1 [261], TTR (transthyretin) [262], IL24 [263], IL9 [264], CHI3L1 [265], CDH1 [266], OLIG2 [267], NKX6-2 [268]. HK2 [269], PNPLA3 [270], CPB2 [271], SEMA4C [272], LRP2 [273], SLC5A11 [274], F11 […”

Section: Discussionmentioning

confidence: 99%

Identification of candidate biomarkers and pathways associated with multiple sclerosis using bioinformatics and next generation sequencing data analysis

Vastrad,

Vastrad

2023

Preprint

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Multiple sclerosis (MS) is the main reason for disability caused by autoimmunity. However, effective biomarkers for MS have not been identified. This study explored the molecular mechanisms and potential therapeutic targets for MS occurrence and progression using bioinformatics and next generation sequencing (NGS) data analysis. NGS data GSE138614, including patients with MS and 25 normal control samples, were obtained from Gene Expression Omnibus (GEO) database Differentially expressed genes (DEGs) were filtered and subjected to gene ontology (GO) and pathway enrichment analyses. Protein–protein interaction (PPI) network and module analyses were performed based on the DEGs. MiRNA-hub gene regulatory network and TF-hub gene regulatory network analysis were built by Cytoscape to predict the underlying microRNAs (miRNAs) and transcription factors (TFs) associated with hub genes. We also validated the identified hub genes via receiver operating characteristic (ROC) curve analysis. A total of 959 DEGs (479 up regulated genes and 480 down regulated genes) were detected. The GO terms and pathways of DEGs involve immune system process, developmental process, immune system and regulation of cholesterol biosynthesis by SREBP (SREBF). The network analysis revealed that hub genes include LCK, PYHIN1, SLAMF1, DOK2, TAB2, CFTR, RHOB, LMNA, EGLN3 and ERBB3 might be involved in the development of MS. The present investigation illustrates a characteristic gene profile in MS, which might contribute to the interpretation of the progression of MS and provide novel biomarkers and therapeutic targets for MS.

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Section: Discussionmentioning

confidence: 99%

Identification of candidate biomarkers and pathways associated with multiple sclerosis using bioinformatics and next generation sequencing data analysis

Vastrad,

Vastrad

2023

Preprint

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“…UBASH3A is a gene that has been linked to type 1 diabetes and other autoimmune diseases [4]. Diseases associated with certain UBASH3A single nucleotide polymorphisms include rheumatoid arthritis [16], vitiligo [17], Graves' disease [18], celiac disease [16], systemic lupus erythematosus [19][20][21], atopic dermatitis [22], and Addison's disease [23] (Figure 2). cleoplasm, and nuclear bodies of several tissues, particularly lymphoid tissues, in both humans and mice.…”

Section: Ubash3 Human Disease Modelsmentioning

confidence: 99%

The Ubiquitin-Associated and SH3 Domain-Containing Proteins (UBASH3) Family in Mammalian Development and Immune Response

Vukojević,

Šoljić,

Martinović

et al. 2024

IJMS

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UBASH3A and UBASH3B are protein families of atypical protein tyrosine phosphatases that function as regulators of various cellular processes during mammalian development. As UBASH3A has only mild phosphatase activity, its regulatory effects are based on the phosphatase-independent mechanisms. On the contrary, UBASH3B has strong phosphatase activity, and the suppression of its receptor signalling is mediated by Syk and Zap-70 kinases. The regulatory functions of UBASH3A and UBASH3B are particularly evident in the lymphoid tissues and kidney development. These tyrosine phosphatases are also known to play key roles in autoimmunity and neoplasms. However, their involvement in mammalian development and its regulatory functions are largely unknown and are discussed in this review.

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Association of LPP and ZMIZ1 Gene Polymorphism with Celiac Disease in Subjects from Punjab, Pakistan

Zulfiqar,

Fiaz,

Khan

et al. 2024

Genes

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Celiac disease (CD) is a complicated autoimmune disease that is caused by gluten sensitivity. It was commonly believed that CD only affected white Europeans, but recent findings show that it is also prevailing in some other racial groups, like South Asians, Caucasians, Africans, and Arabs. Genetics plays a profound role in increasing the risk of developing CD. Genetic Variations in non-HLA genes such as LPP, ZMIZ1, CCR3, and many more influence the risk of CD in various populations. This study aimed to explore the association between LPP rs1464510 and ZMIZ1 rs1250552 and CD in the Punjabi Pakistani population. For this, a total of 70 human subjects were selected and divided into healthy controls and patients. Genotyping was performed using an in-house-developed tetra-amplification refractory mutation system polymerase chain reaction. Statistical analysis revealed a significant association between LPP rs1464510 (χ2 = 4.421, p = 0.035) and ZMIZ1 rs1250552 (χ2 = 3.867, p = 0.049) and CD. Multinomial regression analysis showed that LPP rs1464510 A allele reduces the risk of CD by ~52% (OR 0.48, CI: 0.24–0.96, 0.037), while C allele-carrying subjects are at ~2.6 fold increased risk of CD (OR 3.65, CI: 1.25–10.63, 0.017). Similarly, the ZMIZ1 rs1250552 AG genotype significantly reduces the risk of CD by 73% (OR 0.26, CI: 0.077–0.867, p = 0.028). In summary, Genetic Variations in the LPP and ZMIZ1 genes influence the risk of CD in Punjabi Pakistani subjects. LPP rs1464510 A allele and ZMIZ1 AG genotype play a protective role and reduce the risk of CD.

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Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort

Cited by 3 publications

References 33 publications

Identification of candidate biomarkers and pathways associated with multiple sclerosis using bioinformatics and next generation sequencing data analysis

Identification of candidate biomarkers and pathways associated with multiple sclerosis using bioinformatics and next generation sequencing data analysis

The Ubiquitin-Associated and SH3 Domain-Containing Proteins (UBASH3) Family in Mammalian Development and Immune Response

Association of LPP and ZMIZ1 Gene Polymorphism with Celiac Disease in Subjects from Punjab, Pakistan

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