IL12B ,  IL23A ,  IL23R  and  HLA-C*06  genetic variants in psoriasis susceptibility and response to treatment

Bojko, Adriana; Ostasz, Roksana; Białecka, Monika; Klimowicz, Adam; Malinowski, Damian; Budawski, Robert; Bojko, Piotr; Droździk, Marek; Kurzawski, Mateusz

doi:10.1016/j.humimm.2018.02.003

Cited by 19 publications

(12 citation statements)

References 35 publications

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“…The HLA-C patients with a high prevalence of psoriasis in this study are aligned with the association between HLA-C and psoriasis that many studies have revealed. [28][29][30] In line with a review by Akkoç et al, the ankylosing spondylitis (AS) patients with negative HLA-B*27 showed less correlation with psoriasis and inflammatory bowel disease. 31 Although there are no studies on the association of HLA-C with the severity of SpA, the correlation of HLA-C with SpA-related diseases, especially psoriasis, has been widely discussed.…”

Section: Genetic Identification Of Hla Subtypes In Spa Patientsmentioning

confidence: 68%

HLA class I and discoveries of the HLA-K (pseudogene) related to disease severity and progression in patients with spondyloarthritis in Dr. Soetomo General Hospital, a tertiary health care center in Surabaya, Indonesia

et al. 2022

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Background: Spondyloarthritis (SpA) is a chronic inflammatory disease characterized by enthesitis, sacroiliitis, and axial joint involvement. Although the association of HLA with SpA has been widely reported, there have been no studies of HLA type in the Indonesian population within the last 20 years. This study aims to identify the HLA type in SpA patients at Dr. Soetomo General Hospital, Indonesia. Methods: This study used a cross-sectional analytical design with samples that met the criteria for SpA according to the 2009 ASAS. The clinical scores used in this study were mSASSS, BASFI, ASDAS, and Schober. Genetic identification using PCR was performed followed by sanger sequencing to determine the HLA type in the patient. DNA sequences were aligned with BLAST, and a phylogenetic tree was created using MEGA 11. Descriptive and comparative analyzes were performed using GraphPad Prism 9. Results: This study founded four types of HLA in SpA patients at Dr. Soetomo General Hospital, that is HLA-B with six alleles; -B*2704 (12.86%), -B*2705 (1.43%), -B*2706 (1.43%), -B*1802 (4.28%), -B*57v (1.43%), -B*35 (2.86%), HLA - C (21.43%), and HLA - K (52.83%). Clinical scoring of HLA-C and HLA-K indicated severe and progressive disease activity. The HLA-K had the highest mSASSS (26, 95% CI: 22–28), while HLA-C had the highest BASFI score (60, 95% CI: 55–68), the lowest Schober score (12, 95% CI: 10–14), and the shortest duration of illness (22, 95% CI: 12–36). There is no significant difference in the ASDAS score among types. Conclusions: The most common HLA types found in SpA patients at Dr. Soetomo were HLA-C and HLA-K, with the most progressive disease activity indicated by poor mSASSS, BASFI, ASDAS, and Schober scores with a short duration of illness.

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Section: Genetic Identification Of Hla Subtypes In Spa Patientsmentioning

confidence: 68%

HLA class I and discoveries of the HLA-K (pseudogene) related to disease severity and progression in patients with spondyloarthritis in Dr. Soetomo General Hospital, a tertiary health care center in Surabaya, Indonesia

et al. 2022

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“…The IL-23R gene rs11209026 G minor allele frequency was reported to be significantly higher in psoriatic patients [21]. Boyko et al found no significant difference in allelic frequencies between the patient and control groups at the rs11209026 locus and a minor allele was reported to have a protective effect against the disease [22]. rs11209026 polymorphism was reported to be associated with psoriasis in Europeans, although this polymorphism was not associated with psoriasis in the Asians [23,24].…”

Section: Discussionmentioning

confidence: 99%

“…Boyko et al reported that the C allele in the IL-23R gene rs7530511 locus was evaluated as risky for psoriasis, while the TT, CT, and CC genotypes were not significantly different between the patient and control groups [22]. In a metaanalysis, the rs7530511 T allele was associated with psoriasis and PsA, and the rs7530511 locus was shown to have protective effects on psoriasis [16].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of interleukin-23 receptor (IL-23R) gene polymorphisms and serum IL-23 levels in patients with psoriasis

Filiz¹,

Yıldırım²,

Öztürk³

et al. 2019

Turk J Med Sci

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Introduction Psoriasis is a chronic inflammatory skin disease characterized by papules and/or plaques that are often covered with silvery-whitish scales [1]. The presence of a family history of psoriasis in about 30% of patients, simultaneous presence of psoriasis in monozygotic twins, and association of early-onset psoriasis with many major tissue antigen alleles, especially human leukocyte antigen (HLA) Cw6, are some of the factors that suggest a role for genetic factors in the occurrence of the disease [2,3]. Although the pathogenesis of psoriasis is not known exactly, dysregulation in T cells is thought to induce keratinocyte proliferation. Studies have shown a prominent role of the helper T-cell (Th) 17/interleukin (IL)-23 pathway in the pathogenesis of psoriasis [4,5]. IL-23 is the key cytokine that directs naive CD 4+ T cells to differentiate into Th17 cells by upregulating the IL-23 receptor (IL-23R) on naive T cells, resulting in the secretion of cytokines [4,5]. Previous studies have shown a significant relationship between psoriasis and some polymorphisms in the IL-23R gene [6,7]. The IL-23R gene consists of 11 exons and 10 introns; it is localized in chromosome 1p31.3 and is 2912 bp long (Figure). The rs2201841, rs11209026, rs11465804, rs7530511, and rs1343152 polymorphisms are located in the 7th intron, 9th exon, 8th intron, 7th exon, and 8th intron, respectively. Our study is the first to investigate the relationship between IL-23R gene polymorphisms and psoriasis in Turkey. Additionally, our study is the first in the literature Background/aim: IL-23R gene polymorphisms and the association of these polymorphisms with serum IL-23 levels were investigated in patients with psoriasis in the current study. Materials and methods: Sixty-seven patients with psoriasis who were admitted to our dermatology outpatient clinic and 67 healthy controls were included in the study. Polymorphisms of the IL-23R gene were determined by KASP-PCR method, and serum IL-23 levels were determined by ELISA method. Results: The distribution of IL-23R gene polymorphisms rs2201841, rs11209026, rs7530511, rs1343152, and rs11465804 was not significantly different in the patient and control groups. The AA genotype of the rs2201841 locus in males and the GA genotype in females, as well as the AA genotype of the rs1343152 locus in males and the CA genotype in females, were statistically significant in patients with psoriasis. The mean serum IL-23 level was significantly lower in the patient group (42.62 ± 5.96) compared to the control groups (75.76 ± 13.24). Conclusion: IL-23R gene polymorphisms including rs2201841, rs11209026, rs7530511, rs11465804, and rs1343152 were not found to be significantly related to psoriasis. Different genetic polymorphisms may play a role in the development of psoriasis in female and male populations. Ethnic differences between different populations may have led to differences in the distribution of polymorphisms in the current study with compared to other published studies. Additionally, many different ge...

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“…Of interest, several single nuclear polymorphisms in genes encoding the IL-12/IL-23 axis, such as IL12B , IL23A , IL23R and STAT3 , have been reported to confer PsA susceptibility [ 51 , 52 ]. More specifically, multiple IL23R polymorphisms have been associated both with risk of developing psoriasis and PsA and with PsA severity [ 53–57 ]. However, the alterations of immune function caused by these SNPs are still to be determined.…”

Section: Roles Of Il-23 In Activating Relevant Cell Types Across the Range Of Human Inflammatory Arthropathiesmentioning

confidence: 99%

IL-23 orchestrating immune cell activation in arthritis

Najm

McInnes

2021

Rheumatology

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IL-23 is a cytokine member of the IL-12 superfamily. These heterodimeric cytokines offer broad immune regulatory activity with potential effector function in inflammatory arthritis. IL-23 is a pro-inflammatory cytokine secreted by dendritic cells and macrophages. It plays a key role in both innate and adaptive immunity. By promoting and maintaining T cell differentiation into Th17 T cells, IL-23 is a key player in the pathogenesis of rheumatic diseases. Data from pre-clinical IL-23 knockout models show the major importance of IL-23 in development of arthritis. The induction and maintenance of type 17 cells, which secrete IL-17A and other pro-inflammatory cytokines, contributes to local synovial inflammation and skin inflammation in PsA, and perhaps in RA. Commensurate with this, therapeutic strategies targeting IL-23 have proven efficient in PsA in several studies, albeit not yet in RA.

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IL12B , IL23A , IL23R and HLA-C*06 genetic variants in psoriasis susceptibility and response to treatment

Cited by 19 publications

References 35 publications

HLA class I and discoveries of the HLA-K (pseudogene) related to disease severity and progression in patients with spondyloarthritis in Dr. Soetomo General Hospital, a tertiary health care center in Surabaya, Indonesia

HLA class I and discoveries of the HLA-K (pseudogene) related to disease severity and progression in patients with spondyloarthritis in Dr. Soetomo General Hospital, a tertiary health care center in Surabaya, Indonesia

Evaluation of interleukin-23 receptor (IL-23R) gene polymorphisms and serum IL-23 levels in patients with psoriasis

IL-23 orchestrating immune cell activation in arthritis

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