Correlation analysis of the <i>HLA‐DPB1*05:01</i> and <i>BTNL2</i> genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population

Guo, Huimin; Huang, Yong; Wu, Juan; Zheng, Xiaodong; Ye, Lei; Huang, Huan; Wang, Wenjun; Zhen, Qi; Wu, Jing; Qian, Wenjun; Cheng, Hui; Fan, Xing; Zhang, Xuejun

doi:10.1002/jgm.2961

Cited by 4 publications

(3 citation statements)

References 38 publications

(44 reference statements)

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“…Altered expression of BTNL2 is associated with inflammatory bowel disease [14]. Mutations in this gene are further associated with other autoimmune conditions including sarcoidosis, rheumatoid arthritis, vitiligo, and psoriasis [15][16][17][18]. BTNL2 has also been implicated in autoimmune thyroid disease [19,20].…”

Section: Discussionmentioning

confidence: 99%

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Гаврилова

2019

Case Reports in Immunology

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Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation.

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Section: Discussionmentioning

confidence: 99%

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Гаврилова

2019

Case Reports in Immunology

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“…In gastrointestinal tissue, BTNL2 has high expression in epithelial cells and DCs as well as Peyer's patches of the small intestine. Change in the expression pattern of this molecule can be associated with IBD 108,109 and also the mutation of this gene can be associated with RA, 107,110 vitiligo, 111 sarcoidosis, 112 thyroid disease, 113 and psoriasis 114 …”

Section: The Classification Of Immune Checkpointsmentioning

confidence: 99%

B7 immune checkpoint family members as putative therapeutics in autoimmune disease: An updated overview

et al. 2022

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Autoimmune diseases, especially among young people in the US, are one of the leading causes of morbidity and death. The immune responses are the fundamental pathogenicity of autoimmune disorders. The equilibrium between stimulatory and inhibitory signals is critical for the stimulation, migration, survival, and T cell‐related immune responses. The B7 family can substantially regulate T cell‐mediated immune responses. Nevertheless, recent breakthroughs in immune checkpoint blockade in cancer immunotherapy have facilitated autoimmune diseases, especially among the prone populations. In the current study, we tried to concisely review the role of the B7 family in regulating immune reactions and the influence of immune checkpoint inhibitors on autoimmunity development.

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“…The roles of HLA-DP genes in psoriasis (POS), systemic lupus erythematosus (SLE), and dermatomyositis (DM) have also been investigated [ 10 – 12 ]. Furukawa et al suggested that increased DPB1 allele frequency was associated with the development and progression of SLE [ 11 ]. In addition, Kamatani et al .…”

Section: Introductionmentioning

confidence: 99%

HLA-DPB1 rs9277535 polymorphism is associated with rheumatoid arthritis risk in a Chinese Han population

Yang

Liu

Yan

et al. 2021

Aging

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We used a custom-by-design 48-Plex single nucleotide polymorphism scan™ kit to investigate the relationship between susceptibility to rheumatoid arthritis (RA) and HLA-DPB1 rs9277535 polymorphism in 805 RA patients and 1095 healthy controls from the Chinese Han population. Blood plasma levels of HLA-DPB1 were also examined using enzyme-linked immunosorbent assays in 170 RA patients and 170 matched control individuals. Quantitative reverse transcription PCR (qRT-PCR) was used to evaluate relative HLA-DPB1 mRNA levels in these blood samples as well. The results indicated that some HLA-DPB1 rs9277535 polymorphisms decreased RA susceptibility. Stratified analysis indicated that risk of RA decreased specifically in women and those who were at least 55 years old. In addition, the AG and GG+AG genotypes were associated with CRP status, ACPA status, and ESR in RA patients when the AA genotype was used as the reference group. Furthermore, average HLA-DPB1 plasma levels were increased in RA patients, and HLA-DPB1 plasma levels and mRNA expression were lower in those with the GG genotype than in those with the AA genotype. These results indicate that HLA-DPB1 rs9277535 polymorphism is associated with a decreased risk of RA in the Chinese population.

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Correlation analysis of the HLA‐DPB105:01* and BTNL2 genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population

Cited by 4 publications

References 38 publications

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

B7 immune checkpoint family members as putative therapeutics in autoimmune disease: An updated overview

HLA-DPB1 rs9277535 polymorphism is associated with rheumatoid arthritis risk in a Chinese Han population

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Correlation analysis of the HLA‐DPB1*05:01 and BTNL2 genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population

Cited by 4 publications

References 38 publications

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

B7 immune checkpoint family members as putative therapeutics in autoimmune disease: An updated overview

HLA-DPB1 rs9277535 polymorphism is associated with rheumatoid arthritis risk in a Chinese Han population

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Product

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Correlation analysis of the HLA‐DPB105:01* and BTNL2 genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population