Association between TAP1 gene polymorphisms and alopecia areata in a Korean population

Hk, Kim; H, Lee; Bl, Lew; Wy, Sim; Yo, Kim; Sw, Lee; S, Lee; Ik, Cho; Jt, Kwon; Kim, Hyung Jun

doi:10.4238/2015.december.28.31

Cited by 8 publications

(5 citation statements)

References 30 publications

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“…It has been proposed that TAP gene may be responsible for atopic disease susceptibility. Polymorphisms in TAP1 may affect antigen recognition and presentation, potentially resulting in low expression or entirely absence of MHC-I at the cell surface, which could ultimately lead to an adverse immune response [ 4 ]. Studies on the polymorphisms of the TAP1 gene in several human leukocyte antigen (HLA)-associated diseases such as atopic dermatitis, asthma, rhinitis [ 5 – 14 ] found that rs1057141 and rs1135216 as the most common single nucleotide polymorphisms.…”

Section: Introductionmentioning

confidence: 99%

Associations of TAP1 genetic polymorphisms with atopic diseases: asthma, rhinitis and dermatitis

Liu

Chen

2017

Oncotarget

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Controversial findings have been reported regarding to the effect of the transporter associated with antigen processing 1 (TAP1) polymorphisms exerted on the atopic diseases susceptibility. To gain a better understanding of the effects of TAP1 polymorphisms on the risk of atopic diseases, a retrospective study was carried out to evaluate the association of the most common TAP1 polymorphisms, rs1057141 and rs1135216, with the risk of atopic diseases. From studies published in PubMed, Embase, and Web of Science up to July 2017, ten eligible studies were selected for meta-analysis. The pooled results from rs1135216 polymorphism showed increased risk of atopic diseases in homozygote and recessive comparison. From the subgroup analysis by ethnicity, it was found that rs1135216 polymorphism contributed to atopic diseases susceptibility among Africans in all the five genetic models. Subgroup analysis by atopic types indicated significant association of TAP1 polymorphism rs1135216 with asthma in the allele, dominant and recessive models and with allergic rhinitis in the recessive model. As to rs1057141, increased risk of atopic disease in the allelic, dominant and heterozygous model was found in African population. Overall, this meta-analysis study demonstrated that rs1135216 polymorphism may contribute to atopic diseases susceptibility in Asians and Africans as assessed in this study. However, well designed large-scale case-control studies are needed to confirm such preliminary findings.

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Section: Introductionmentioning

confidence: 99%

Associations of TAP1 genetic polymorphisms with atopic diseases: asthma, rhinitis and dermatitis

Liu

Chen

2017

Oncotarget

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“…The MHC class I complex consists of three main subunit structures, which together enable the escape of immune proteins from the endoplasmic reticulum (ER) to the cell surface. The complex includes the ATP-binding cassette transporter (TAP), ERp57, and MHC class I molecules (30)(31)(32). TAP belongs to a large family of ATP-binding cassette transporters and is composed of the TAP1 and TAP2 subunits (33).…”

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confidence: 99%

Nsp1α of Porcine Reproductive and Respiratory Syndrome Virus Strain BB0907 Impairs the Function of Monocyte-Derived Dendritic Cells via the Release of Soluble CD83

Chen

Bai

Liu

et al. 2018

J Virol

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Porcine reproductive and respiratory syndrome virus (PRRSV), a virulent pathogen of swine, suppresses the innate immune response and induces persistent infection. One mechanism used by viruses to evade the immune system is to cripple the antigen-processing machinery in monocyte-derived dendritic cells (MoDCs). In this study, we show that MoDCs infected by PRRSV express lower levels of the major histocompatibility complex (MHC)-peptide complex proteins TAP1 and ERp57 and are impaired in their ability to stimulate T cell proliferation and increase their production of CD83. Neutralization of sCD83 removes the inhibitory effects of PRRSV on MoDCs. When MoDCs are incubated with exogenously added sCD83 protein, TAP1 and ERp57 expression decreases and T lymphocyte activation is impaired. PRRSV nonstructural protein 1α (Nsp1α) enhances CD83 promoter activity. Mutations in the ZF domain of Nsp1α abolish its ability to activate the CD83 promoter. We generated recombinant PRRSVs with mutations in Nsp1α and the corresponding repaired PRRSVs. Viruses with Nsp1α mutations did not decrease levels of TAP1 and ERp57, impair the ability of MoDCs to stimulate T cell proliferation, or increase levels of sCD83. We show that the ZF domain of Nsp1α stimulates the secretion of CD83, which in turn inhibits MoDC function. Our study provides new insights into the mechanisms of immune suppression by PRRSV. PRRSV has a severe impact on the swine industry throughout the world. Understanding the mechanisms by which PRRSV infection suppresses the immune system is essential for a robust and sustainable swine industry. Here, we demonstrated that PRRSV infection manipulates MoDCs by interfering with their ability to produce proteins in the MHC-peptide complex. The virus also impairs the ability of MoDCs to stimulate cell proliferation, due in large part to the enhanced release of soluble CD83 from PRRSV-infected MoDCs. The viral nonstructural protein 1 (Nsp1) is responsible for upregulating CD83 promoter activity. Amino acids in the ZF domain of Nsp1α (L5-2A, rG45A, G48A, and L61-6A) are essential for CD83 promoter activation. Viruses with mutations at these sites no longer inhibit MoDC-mediated T cell proliferation. These findings provide novel insights into the mechanism by which the adaptive immune response is suppressed during PRRSV infection.

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Section: Discussionmentioning

confidence: 99%

“…Investigation of polymorphisms in TAP1 identified an association with several autoimmune diseases and AA is one of them 28. The study of Kim et al was one of the first documented studies in comparing genotypic and allelic frequencies of TAP1 in patients with AA 28. In their study, Korean patients were tested for three selected SNPs (rs2071480, rs1135216, and rs1057141), whereas results suggested an association of a promoter SNP (rs2071480) in the heterozygous G/T co-dominant.…”

Section: Discussionmentioning

confidence: 99%

<p>Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study</p>

AL-Eitan¹,

Momani²,

Momani³

et al. 2019

TACG

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BackgroundAlopecia areata (AA) is a non-cicatricial patchy hair loss on the scalp, face or other parts of the body. AA was found to be responsive to immunosuppressive therapies, a finding that supports an autoimmune basis for the disease. Several genetic studies have shown the significance of immunological factors as key genetic components in AA.ObjectiveIn this study, we aimed to investigate the genetic association of 7 single-nucleotide polymorphisms (SNPs) within five candidate genes including TAP1, CXCL1, CXCL2, HSPA1B, and TNFα with AA susceptibility in the Jordanian Arab population.MethodsA case–control genetic association study conducted in 152 patients and 150 healthy individuals was performed using the sequenom MassARRAY system (iPLEX GOLD) to genotype the selected SNPs.Resultsrs1800629 SNP of the TNFα gene was significantly associated with AA in the heterozygous and rare homozygous genotypes (P=0.022 and P=0.0079, respectively) with no linkage of the TAP1, CXCL1, CXCL2 and HSPA1B variants.ConclusionThis is the first study of its kind among the Jordanian population providing evidence of genetic association of the TNFα with AA susceptibility. Further genetic studies on Arab descent including other variants are required to clarify and strengthen the association of these genes with susceptibility to develop AA.

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Association between TAP1 gene polymorphisms and alopecia areata in a Korean population

Cited by 8 publications

References 30 publications

Associations of TAP1 genetic polymorphisms with atopic diseases: asthma, rhinitis and dermatitis

Associations of TAP1 genetic polymorphisms with atopic diseases: asthma, rhinitis and dermatitis

Nsp1α of Porcine Reproductive and Respiratory Syndrome Virus Strain BB0907 Impairs the Function of Monocyte-Derived Dendritic Cells via the Release of Soluble CD83

<p>Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study</p>

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