A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide polymorphisms: a preliminary study

Martínez‐Nava, Gabriela Angélica; Zamudio-Cuevas, Yessica; Terrazas-Ontiveros, Ninoska Aleida; Martínez-Flores, Karina; Espinosa-Morales, Rolando; Mijares-Díaz, Fernando; Juárez-Barreto, Shaila Monserrat; Lozada, Carlos; Valdés-Flores, Margarita; Sánchez-Sánchez, Roberto; Hidalgo‐Bravo, Alberto; Fernández‐Torres, Javier

doi:10.1007/s11033-021-06801-3

Cited by 5 publications

(2 citation statements)

References 40 publications

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“…number 4351379 ThermoFisher Scientific, C___3056870_10 and C___3056885_10, respectively). The selection criteria were based on the fact that both variants had been previously explored in other populations; additionally, these two variants have been previously reported by our study group [ 12 , 13 , 22 , 23 ] and that the minor allele frequency (MAF) in the Mexican population was greater than 1% ( http://www.ensembl.org ). Genotyping was performed using the allelic discrimination method with TaqMan probes (Applied Biosystems, Foster City, CA, USA).…”

Section: Methodsmentioning

confidence: 99%

HLA-B27 may modulate the interaction between ERAP1 polymorphisms and smoking in ankylosing spondylitis patients

et al. 2022

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Background Ankylosing spondylitis (AS) is an autoimmune disease that affects the enthesis and synovial membrane of the spine, the sacroiliac vertebrae and peripheral joints. Genetic susceptibility to AS is mainly due to the presence of the HLA-B*27 (B27) allele, and endoplasmic reticulum aminopeptidase-1 (ERAP-1) plays a key role in antigen processing and presentation to HLA class I molecules. Tobacco consumption is one of the main environmental factors involved in the pathogenesis of various diseases, including AS. The objective of the present study was to evaluate the association and the interactive effects of variants of the ERAP1 gene with smoking in modulating the risk of AS. Methods and results A case–control study in the Mexican population. The association of two functional variants of the ERAP1 gene (rs30187 and rs27044) in patients with AS was analyzed by the allelic discrimination method using TaqMan probes. B27 was typified by PCR-SSP. The interaction between the variants of ERAP1 and B27 and smoking was assessed using the multifactorial dimensionality reduction (MDR) method. There was no significant association of the two variants of ERAP1 in the cases compared with the controls (P > 0.05); however, a strong interaction between the variants and smoking could be demonstrated, with entropy values of 4.97% for rs30187 and 5.13% for rs27044. In addition, these interaction effects were increased in patients carrying the B27 allele. Conclusions The rs30187 and rs27044 variants of the ERAP1 gene appear to potentiate the effect of smoking in patients with AS carrying the B27 allele.

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Section: Methodsmentioning

confidence: 99%

HLA-B27 may modulate the interaction between ERAP1 polymorphisms and smoking in ankylosing spondylitis patients

et al. 2022

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“…Two Mexican studies conducted separately by Fernández-Torres et al and Martínez-Nava et al [79,80] reported that the rs27044 polymorphism of the ERAP1 gene was not significantly associated with axSpA.…”

Section: The Rs27044 Polymorphismmentioning

confidence: 95%

Shedding Light on the Role of ERAP1 in Axial Spondyloarthritis

Saad,

Abdul-Sattar,

Abdelal

et al. 2023

Cureus

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Spondyloarthritis (SpA) is a multifactorial chronic inflammatory disease affecting the axial skeleton (axSpA) and/or peripheral joints (p-SpA) and entheses. The disease's pathogenesis depends on genetic, immunological, mechanical, and environmental factors. Endoplasmic reticulum aminopeptidase 1 (ERAP1) is a multifunctional enzyme that shapes the peptide repertoire presented by major histocompatibility complex (MHC) class I molecules. Genome-wide association studies (GWAS) have identified different single nucleotide polymorphisms (SNPs) in ERAP1 that are associated with several autoimmune diseases, including axSpA. Therefore, a deeper understanding of the ERAP1 role in axSpA could make it a potential therapeutic target for this disease and offer greater insight into its impact on the immune system. Here, we review the biological functions and structure of ERAP1, discuss ERAP1 polymorphisms and their association with axSpA, highlight the interaction between ERAP1 and human leukocyte antigen (HLA)-B27, and review the association between ERAP1 SNPs and axSpA clinical parameters.

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The interplay between HLA-B and NLRP3 polymorphisms may be associated with the genetic susceptibility of gout

et al. 2022

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A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide polymorphisms: a preliminary study

Cited by 5 publications

References 40 publications

HLA-B27 may modulate the interaction between ERAP1 polymorphisms and smoking in ankylosing spondylitis patients

HLA-B27 may modulate the interaction between ERAP1 polymorphisms and smoking in ankylosing spondylitis patients

Shedding Light on the Role of ERAP1 in Axial Spondyloarthritis

The interplay between HLA-B and NLRP3 polymorphisms may be associated with the genetic susceptibility of gout

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