HLA-B*27 subtypes and their implications in the pathogenesis of ankylosing spondylitis

Dashti, Navid; Mahmoudi, Mahdi; Aslani, Saeed; Jamshidi, Ahmadreza

doi:10.1016/j.gene.2018.05.092

Cited by 37 publications

(31 citation statements)

References 90 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Like other autoimmune disorders, AS pathogenesis has been attributed to complicated interactions of genetic, epigenetic, and environmental contributing factors . The human leukocyte antigen (HLA)‐B27, found in the major histocompatibility complex (MHC) region, has long been blamed as the major genetic culprit in AS pathogenesis; nonetheless, it accounts for only a portion of the overall genetic risks in AS . Hence, a number of non‐MHC regions also play roles in AS pathogenesis .…”

Section: Introductionmentioning

confidence: 99%

Susceptibility to ERAP1 gene single nucleotide polymorphism modulates the inflammatory cytokine setting in ankylosing spondylitis

et al. 2019

View full text Add to dashboard Cite

Aim: To evaluate the association of ERAP1 gene single nucleotide polymorphisms (SNPs) with the risk of ankylosing spondylitis (AS) and their role in modulation of the inflammatory interleukin (IL)-17/IL-23 axis in the disease. Methods: For genotyping, 190 AS cases and 190 healthy controls were enrolled.After DNA extraction, all the subjects were genotyped for rs17482078, rs469876, and rs27038 polymorphisms using single specific primer polymerase chain reaction (PCR) assay. After isolation of peripheral blood mononuclear cells, RNA extraction and complementary DNA synthesis, real-time PCR using SYBR Green master mix was employed to determine messenger RNA (mRNA) expression of IL-17A and IL-23 in PBMCs. Using enzyme-linked immunosorbent assay, the concentration of these cytokines was determined in serum samples. Results:It was observed that the A allele of rs27038 polymorphism significantly increased AS risk (odds ratio [OR] = 1.53, 95% CI =1.11-2.12; P = 0.0096). Moreover, AA

show abstract

Section: Introductionmentioning

confidence: 99%

Susceptibility to ERAP1 gene single nucleotide polymorphism modulates the inflammatory cytokine setting in ankylosing spondylitis

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Moreover, it has been discovered that a decrease of eraP1 modifies only the expression of HLA-B*2705 and HLA-B*2704, which are also subtypes associated with as. The expression of HLA-B*2706 and HLA-B*2709 remain unchanged after eraP1 is modified (18).…”

Section: Structure and Functionmentioning

confidence: 97%

HLA-B*27 in human health and disease

Andrei¹,

Boloca²,

Popa³

et al. 2019

Ro J Rheumatol.

View full text Add to dashboard Cite

HLA-B*27 is one of the most studied HLA allele due to its association with diseases from the spondyloarthritis group, mainly ankylosing spondylitis. This association is still the strongest association described in the literature between an HLA gene and a disease. In the general population, the distribution of HLA-B*27 all over the world seems to vary according to the geographic area of the country. It also has a protective role against certain conditions, especially viral infections.

show abstract

“…A bulk of research has suggested a signi cant role for genetic variations in the etiology and pathogenesis of AS (2,3), in spite of the remarkable involvement of environmental factors as well as aberrant epigenetic regulations (4)(5)(6)(7)(8). The pathogenesis of AS is complicated, and earlier research concentrated on the misfolding of human leukocyte antigen (HLA)-B27 molecule in the disease susceptibility; however, genetic studies have proposed that HLA-B27 accounts for a small part of the overall AS risk (9).…”

Section: Introductionmentioning

confidence: 99%

Association of the genetic variants in the Endoplasmic reticulum aminopeptidase 2 gene with ankylosing spondylitis susceptibility

Ebrazeh

Ezzatifar

Torkamandi

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

Background: Genetic polymorphisms in the Endoplasmic reticulum aminopeptidase (ERAP) 2 gene has been attributed with the Ankylosing spondylitis (AS) etiopathogenesis. Here we assessed the association of ERAP2 gene single nucleotide polymorphisms (SNPs) with AS predisposition in Iranian patients and determined their effect on the inflammatory state of the patients.Methods: For genotyping of rs2548538, rs2287988, and rs17408150 SNPs using Real-time allelic discrimination approach, DNA was extracted from the whole blood of 250 AS patients and 250 healthy subjects. RNA of the peripheral blood mononuclear cells (PBMCs) was separated, cDNA was synthesized, and transcriptional levels of cytokines, including interleukin (IL)-17A, IL-23, IL-10, and transforming growth factor (TGF)-β were measured. Enzyme-linked immunosorbent assay (ELISA) was used to measure the serum concentration on the cytokines.Results: Three ERAP2 gene SNPs were not associated significantly with AS risk. Nonetheless, rs2287988 and rs17408150 SNPs showed statistically significant association with susceptibility to the disease in those AS subjects who were positive to Human leukocyte antigen (HLA)-B27. Transcriptional level and serum concentration of IL-17A and IL-23 were higher, while those of IL-10 were lower in both AS patients and HLA-B27 positive patient group relative to control group. Nevertheless, ERAP2 gene SNPs in the HLA-B27 positive AS patients did not affect the transcriptional level and serum concentration of cytokines.Conclusions: ERAP2 gene rs2287988 and rs17408150 SNP are associated with susceptibility to AS, but they probably are not determining the levels of IL-17A, IL-23, and IL-10 in this disease.

show abstract

HLA-B*27 subtypes and their implications in the pathogenesis of ankylosing spondylitis

Cited by 37 publications

References 90 publications

Susceptibility to ERAP1 gene single nucleotide polymorphism modulates the inflammatory cytokine setting in ankylosing spondylitis

Susceptibility to ERAP1 gene single nucleotide polymorphism modulates the inflammatory cytokine setting in ankylosing spondylitis

HLA-B*27 in human health and disease

Association of the genetic variants in the Endoplasmic reticulum aminopeptidase 2 gene with ankylosing spondylitis susceptibility

Contact Info

Product

Resources

About