Association analysis of ERAP1 gene single nucleotide polymorphism in susceptibility to ankylosing spondylitis in Iranian population

Babaie, Farhad; Ebrazeh, Mehrdad; Hemmatzadeh, Maryam; Mohammadi, Fatemeh; Shabgah, Arezoo Gowhari; Hajaliloo, Mehrzad; Ebrahimi, Ali; Shirafkan, Naghmeh; Azizi, Gholamreza; Mohammadi, Hamed; Babaloo, Zohreh

doi:10.1016/j.imlet.2018.11.002

Cited by 18 publications

(19 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The first replication study of ERAP1 SNPs in Iranian AS patients demonstrated that rs27434, rs30187, and rs13167972 polymorphisms were associated with AS risk . Our previous studies also indicated the association of ERAP1 gene rs27044 and rs10050860 SNPs with AS in an Iranian population . In the current study, the association of ERAP1 gene rs27038 SNP with AS susceptibility was detected.…”

Section: Discussionsupporting

confidence: 76%

See 1 more Smart Citation

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

et al. 2019

Self Cite

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: Discussionsupporting

confidence: 76%

“…Previous studies have disclosed the role of ERAP1 gene polymorphisms with AS susceptibility in an Iranian population . However, the role of these SNPs in affecting the important inflammatory IL‐17/IL‐23 axis has not been investigated.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

Self Cite

View full text Add to dashboard Cite

show abstract

“…Association of ERAP1 SNPs has already been reported with AS susceptibility in Iranian patients during our previous works (18)(19)(20)(21). Furthermore, we recently indicated the association ERAP2 gene SNPs AS susceptibility in the HLA-B27 positive subjects (22).…”

Section: Introductionsupporting

confidence: 64%

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

“…The sample sizes of an individual study ranged from 84 to 3014 for AS patients, and 77 to 20 164 for controls. Thirteen studies were conducted on Europeans, and the remaining 13 studies were performed on Asians . Allele distribution was provided by all included studies, and genotype distribution was provided by 18 studies .…”

Section: Resultsmentioning

confidence: 99%

“…Data synthesis for rs27044 was available in 20 studies including 10 725 cases and 10 769 controls. For the overall population, merged data indicated a significant correlation between rs27044 and AS predisposition under five genetic models: G versus C, OR = 1.24, 95% CI 1.16‐1.33, P< .001, Figure ; GG versus CC, OR = 1.39, 95% CI 1.24‐1.55, P< .001; GC versus CC, OR = 1.37, 95% CI 1.19‐1.58, P< .001; GG + GC versus CC, OR = 1.40, 95% CI 1.21‐1.59, P <.001; GG versus GC + CC, OR = 1.21, 95% CI 1.10‐1.33, P< .001.…”

Section: Resultsmentioning

confidence: 99%

Association of rs27044 and rs30187 polymorphisms in endoplasmic reticulum aminopeptidase 1 gene and ankylosing spondylitis susceptibility: A meta‐analysis

Gao

et al. 2020

Int J of Rheum Dis

View full text Add to dashboard Cite

Background:The findings regarding association of endoplasmic reticulum aminopeptidase 1 (ERAP1) gene polymorphisms and ankylosing spondylitis (AS) susceptibility are inconsistent. Our aim is to appraise and merge the existing evidence on the relationship of rs27044 and rs30187 polymorphisms in ERAP1 gene and susceptibility to AS.Methods: Electronic databases of PubMed, Web of Science, EMBASE, Cochrane Library, Wanfang, and CNKI were retrieved for relevant publications. The search was conducted from inception to 10 June, 2019. Studies on the association of rs27044 and rs30187 polymorphisms and risk of AS were included. Quality evaluation was carried out using Newcastle-Ottawa Scale (NOS). Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated to appraise the associations under allelic and genotypic models. Results:In total, 26 case-control studies with 31 cohorts containing 17 223 AS patients and 36 915 controls were eligible for this meta-analysis. According to NOS, each study received ≥ 5 scores. The pooled data indicated that rs27044 and rs30187 polymorphisms were significantly associated with AS susceptibility in the overall population: rs27044, G versus C, OR = 1.24, 95% CI 1.16-1.33, P<.001; rs30187, T versus C, OR = 1.24, 95% CI 1.17-1.33, P<.001. When stratified by ethnicity, rs27044 appeared to be significantly correlated with AS in both Asians and Caucasians. For rs30187, despite positive association being observed under the allelic model in both Asians and Caucasians, the findings of genotypic comparisons supported the association only existed in Caucasians but not Asians. Conclusion:This study suggests that rs27044 and rs30187 polymorphisms are significantly associated with increased risk of AS, especially in Caucasians. K E Y W O R D Sankylosing spondylitis, ERAP1, meta-analysis, polymorphism | INTRODUC TI ONAnkylosing spondylitis (AS) is a chronic inflammatory condition which typically affects the axial skeleton and sacroiliac joints.Clinical features of AS include fatigue, spinal stiffness, limitation in activities, and serious back pain. 1 The prevalence of AS is estimated to be 0.74-3.19 per 1000 across different populations. 2 AS mainly strikes individuals at the age of late teens to early twenties and

show abstract

Association analysis of ERAP1 gene single nucleotide polymorphism in susceptibility to ankylosing spondylitis in Iranian population

Cited by 18 publications

References 31 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

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

Association of rs27044 and rs30187 polymorphisms in endoplasmic reticulum aminopeptidase 1 gene and ankylosing spondylitis susceptibility: A meta‐analysis

Contact Info

Product

Resources

About