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Genetic polymorphisms of G protein-coupled receptor 65 gene are associated with ankylosing spondylitis in a Chinese Han population: A case-control study

期刊: HUMAN IMMUNOLOGY, 2019; 80 (2)

Objective: This study aimed to assess the association between two tag single nucleotide polymorphisms (SNPs) (rs68177277 and rs11624293) of G protein-coupled receptor 65 (GPR65) gene and ankylosing spondylitis (AS) susceptibility in a Chinese Han population. Methods: 673 patients with AS diagnosed according to the modified New York criteria and 679 age- and gender matched healthy controls were recruited. SNP genotyping for rs68177277 and rs11624293 polymorphisms were performed using the SNPscan technique. Disease activity was assessed by the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). Results: Genotype and allele distribution of rs11624293 but not rs68177277 were significantly different between AS and controls (p = 0.004 and p = 0.002). Compared to the wild-type T/T genotype and T allele at rs11624293, the frequencies of C/T genotype and C allele were significantly higher in AS than controls after adjusting for age and gender (OR = 1.527, 95%CIs: 1.190-1.958; OR = 1515, 95%CIs: 1183-1.942, respectively). Dominant and co-dominant model of rs11624293 were predictive of AS susceptibility. In AS patients, the genotype of rs11624293 was significantly associated with BASFI scores in those with low disease activity (BASDAI < 4, p = 0.007). Conclusions: The results of our study suggest that rs11624293 polymorphism of GPR65 gene is associated with the susceptibility and severity of AS in Chinese Han population.

IF:2.2

Functional variants of TNFAIP3 are associated with systemic lupus erythematosus in a cohort of Chinese Han population

期刊: HUMAN IMMUNOLOGY, 2019; 80 (2)

Tumor necrosis factor-alpha-induced protein 3 (TNFAIP3) is a negative regulator of NF-kappa B activity. We previously reported that the paired tandem polymorphic dinucleotides TT > A (rs148314165, rs200820567 of TNFAIP3) conferred the risk for systemic lupus erythematosus (SLE) in European and Korean populations. We investigated the genetic association of the TT > A variants, as well as the functional coding variant rs2230926 in exon 3 of TNFAIP3 in 1229 Chinese Han SLE patients and 1608 matched population controls. We further evaluated the role of these variants in regulating expression of the TNFAIP3 gene and NF-kappa B signaling pathway in their peripheral blood mononuclear cells from Chinese SLE patients. The TT > A variants and the TNFAIP3 exon 3 coding variant rs2230926 demonstrated significant associations in SLE (P-TT > A = 8.96 x 10(-12), odds ratio [OR] = 2.07, 95% confidence interval [CI] = 1.68-2.55). SLE patients carrying the risk A allele showed reduced messenger RNA expression of the TNFAIP3 gene and increased expression of NF-kappa B1 in PBMCs. Conditional analyses revealed that the TT > A variants are likely to be causal variants in Chinese Han SLE patients. The TT > A variants associated with Chinese Han SLE and negatively regulate the expression of the TNFAIP3 gene resulting in enhanced NF-kappa B activity.

IF:2.2

The variations of TRBV genes usages in the peripheral blood of a healthy population are associated with their evolution and single nucleotide polymorphisms

期刊: HUMAN IMMUNOLOGY, 2019; 80 (3)

T cell receptors (TCRs) are a class of T cell surface molecules that recognize the antigen-derived peptides presented by the major histocompatibility complex (MHC) and are able to trigger a series of immune responses. TCRs are important members of the adaptive immune system that arose in the jawed fish 500 million years ago. T cell receptor beta variable (TRBV) genes have been widely used to characterize TCR repertoires. Studying the evolution of TRBV may help us to better understand the adaptive immune system. To investigate TRBV evolution and its impacts on the usages of TRBV genes in human populations, we compared the TRBV genes and their homologous sequences among humans, mouse, rhesus and chimpanzee, analyzed the single-nucleotide polymorphisms (SNPs) located at TRBV loci, and sequenced TCR repertoires in the peripheral blood of 97 healthy donors. We found that functional TRBVs are more evolutionarily conserved but possess more SNPs in human populations than do nonfunctional (pseudo) TRBVs. Based on the conservation levels in the four species, we classified the functional TRBVs into 2 groups: old (conserved between mouse and humans) and new (conserved only in primates). The new TRBVs evolve faster and possess more SNPs than the old TRBVs. The variations in TRBV genes frequencies in the peripheral blood of healthy donors are negatively correlated with SNP density. These observations suggest that TRBV usages may be influenced by TCR-MHC co-evolution.

IF:2.2

CD3(+) CD20(+) T cells and their roles in human diseases

期刊: HUMAN IMMUNOLOGY, 2019; 80 (3)

CD3(+) CD20(+) T cells are a population of CD3(+) T cells co-expressing CD20 that make up to similar to 3-5% of the CD3(+) T-cell compartment in the peripheral blood of human beings. In healthy individuals, CD3(+) CD20(+) T cells are heterogeneous for containing a lower proportion of CD4(+) cells, but produce higher levels of IL-17A and/or IFN-gamma than those of CD3(+)CD20(-) T cells. Recently, emerging studies have shown a pathogenic behavior of CD3(+)CD20(+) T cells in autoimmune diseases and CD20(+) T-cell malignancies, and patients with the diseases may benefit from anti-CD20 immunotherapy to deplete these cells. However, CD3(+)CD20(+) T cells may also play a protective role in ovarian cancer and HIV infection for their strong propensity to IFN-gamma production. In this review, we will describe the current knowledge about CD3(+)CD20(+) T-cell biology, and discuss their functional roles in autoimmune diseases as well as cancer and infectious diseases.

IF:2.2

Influence of the TNFSF4 rs1234315 polymorphism in the susceptibility to systemic lupus erythematosus and rheumatoid arthritis

期刊: HUMAN IMMUNOLOGY, 2019; 80 (4)

Objectives: The tumour necrosis factor superfamily 4 (TNFSF4) is a candidate gene for autoimmune diseases. We investigated the relationship of this gene with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in a Chinese Guangxi population. Methods: A total of 294 patients with SLE, 210 with RA, and 282 healthy controls were genotyped for single nucleotide polymorphism (SNP) rs1234315 using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The potential functional effects of the SNP were predicted by in silico analysis. Results: Statistically significant associations with SLE and RA were detected at rs1234315, both by allele analysis (odds ratio 1.47, 95% confidence interval 1.17-1.86, p = 0.001; odds ratio 1.49, 95% confidence interval 1.15-1.92, p = 0.002; respectively), and genotype analysis (p = 0.003 and p = 7.000 x 10(-5), respectively). The Akaike's information criterion (MC) values indicated that the recessive model may serve as the best-fit model for the SNP for SLE and RA. Conclusion: Our results provided support for TNFSF4 rs1234315 as a SLE and RA susceptibility locus in a Chinese Guangxi population.

IF:2.2

IgM(+)CD27(+) B cells possessed regulatory function and represented the main source of B cell-derived IL-10 in the synovial fluid of osteoarthritis patients

期刊: HUMAN IMMUNOLOGY, 2019; 80 (4)

Synovial inflammation is observed in patients with osteoathritis (OA) and likely contributed to its exacerbation. Regulatory B (Breg) cells are shown to suppress inflammation in various diseases, including rheumatoid arthritis (RA). To examine whether Breg cells also participated in OA, we examined the synovial fluid from OA patients, and compared with that in RA patients. In OA synovial fluid, IL-10-producing B cells were present directly ex vivo and were increased upon stimulation, indicating that B cells were a source of IL-10 directly at the affected site of OA patients. Interestingly, the frequency of IL-10(+) cells in synovial B cells was higher in OA patients than in RA patients, but the total number of IL-10(+) B cells in OA was lower than that in RA, suggesting that OA patients presented lower B cell infiltration than RA patients. Phenotypical analysis demonstrated that the IL-10(+) B cells were IgM(+) and CD27(+), but not CD24(hi) or CD38(hi). To allow functional analysis of IgM(+)CD27(+) B cells, the IgM(+)CD27(+) B cells in the blood of OA patients were examined. These blood IgM(+) CD27 B cells expressed more IL-10, but less CD80 and CD86 than non-IgM(+)CD27(+) B cells. Blood IgM(+)CD27(+) B cells suppressed the proliferation and IFN-y expression of autologous T cells, and this effect could be reverted if IL-10 was inhibited. Furthermore, we found that patients with more severe OA presented lower levels of IL-10(+) B cells in the synovial fluid. Together, our study described an IgM(+)CD27(+) B cell subset in OA patients, which represented the major IL-10-secreting B cell type in the synovial fluid of OA patients and possessed regulatory function.

IF:2.2

Distribution of HLA-DRB1, DPB1 and DQB1 alleles and haplotypes in Mongolian Minority in China

期刊: HUMAN IMMUNOLOGY, 2019; 80 (4)

HLA-DRB1, -DQB1 and -DPB1 allele frequencies and estimated haplotype frequencies from 496 unrelated healthy Mongol subjects who living in Inner Mongolia Autonomous Region of China has been reported. HLA genes were genotyped using high-resolution sequence-based typing method. Chinese-Mongolian belongs to northern group of East Asians, but with its specific HLA-DRB1, DPB1 and DQBI alleles and haplotypes characteristic.

IF:2.2

Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations

期刊: HUMAN IMMUNOLOGY, 2019; 80 (5)

The endoplasmic reticulum aminopeptidases (ERAPs), ERAP1 and ERAP2, makes a role in shaping the HLA class I peptidome by trimming peptides to the optimal size in MHC-class I-mediated antigen presentation and educating the immune system to differentiate between self-derived and foreign antigens. Association studies have shown that genetic variations in ERAP1 and ERAP2 genes increase susceptibility to autoimmune diseases, infectious diseases, and cancers. Both ERAP1 and ERAP2 genes exhibit diverse polymorphisms in different populations, which may influence their susceptibly to the aforementioned diseases. In this article, we review the distribution of ERAP1 and ERAP2 gene polymorphisms in various populations; discuss the risk or protective influence of these gene polymorphisms in autoimmune diseases, infectious diseases, and cancers; and highlight how ERAP genetic variations can influence disease associations.

IF:2.2

Particulate poly(methyl methacrylate) could stimulate proinflammatory CD4 T cell responses in a monocyte-dependent manner, and directly mediate cell death

期刊: HUMAN IMMUNOLOGY, 2019; 80 (12)

Poly(methyl methacrylate) (PMMA) is a synthetic polymer that has been widely used in various medical implants. Traditionally considered a biologically inert material, it is now understood that PMMA may have proinflammatory properties. Here, we present a proof-of-concept study of the effect of PMMA on CD4 T cells. Using particulate PMMA, a material that resembled wear debris in orthopedic implants, to stimulate whole peripheral blood mononuclear cells, we found that the expression of IFNgamma, IL-4, IL-17, and TGFbeta could all be upregulated in CD4 T cells in a manner that was dependent on the dose of particulate PMMA. Furthermore, compared to direct anti-CD3/CD28 stimulation, PMMA preferentially stimulated the expression of IFNgamma and IL-17 but not the expression of IL-4 or TGFbeta. Interestingly, the presence of autologous monocytes was required, since PMMA had no stimulatory effect on isolated CD4 T cells. We further demonstrated that direct monocyte-CD4 T cell contact was required, and the costimulatory molecules CD80 and CD86 were involved for the optimal stimulation of CD4 T cells. PMMA also directly mediated the death of CD4 T cells in a manner that was dependent on dose but independent of the presence of monocytes. Overall, our study revealed that PMMA could induce CD4 T cell death, and also could result in CD4 T cell activation with a preference toward proinflammatory responses in a monocyte-dependent manner.

IF:2.2

Evaluation of lymphocyte function by IFN-gamma secretion capability assay in the diagnosis of lymphoma-associated hemophagocytic syndrome

期刊: HUMAN IMMUNOLOGY, 2019; 80 (12)

Lymphoma-associated hemophagocytic syndrome (LAHS) is a highly life-threatening disease characterized by an uncontrolled immune disorder. Both under-recognition and delayed diagnosis may contribute to aggressive diseases, and a poorer prognosis. Identification of laboratory features specific for LAHS patients may allow for early detection and intervention with improved outcomes. In the present study, 120 lymphoma patients at first diagnosis were recruited and the function of lymphocytes was evaluated by IFN-gamma secretion assay at first diagnosis and follow up. During the surveillance period, 20 patients who complicated with hemophagocytic lymphohistiocytosis (HLH) were classified as LAHS group, and 30 patients without infectious diseases during the course of treatment were classified as lymphoma control group. In addition, 20 non-malignant associated HLH patients recruited as HLH control group and 50 healthy control (HC) subjects were also included. The IFN-gamma secretion capability of lymphocytes was compared between first diagnosis of lymphoma patients who was complicate with HLH or not in the disease progression. Our results showed that only NK cell activity was decreased in lymphoma control group, but the activities of NK, CD4 + and CD8 + T cells were all significantly decreased at the time of lymphoma diagnosis in those who would progress with HLH. During the course of treatment, lymphocyte function was relatively stable in lymphoma patients but became further decreased when suffering from complication of LAHS. The IFN-gamma secretion capability of lymphocytes in LAHS and non-malignant associated HLH patients were all significantly decreased compared with HCs. So the occurrence of HLH was the key factor leading to the impaired activity of lymphocytes. These data suggest that decreased lymphocyte function might be used as a predictor of LAHS, which has critical clinical significance in diagnosis and further understanding the pathogenesis of the disease.

IF:2.2

Clinical relevance of lung-restricted antibodies in lung transplantation

期刊: HUMAN IMMUNOLOGY, 2019; 80 (8)

Lung transplant is a definitive treatment for several end-stage lung diseases. However, the high incidence of allograft rejection limits the overall survival following lung transplantation. Traditionally, alloimmunity directed against human leukocyte antigens (HLA) has been implicated in transplant rejection. Recently, the clinical impact of non-HLA lung-restricted antibodies (LRA) has been recognized and extensive research has demonstrated that they may play a dominant role in the development of lung allograft rejection. The immunogenic lung-restricted antigens that have been identified include amongst others, collagen type I, collagen type V, and k-alpha 1 tubulin. Pre-existing antibodies against these lung-restricted antigens are prevalent in patients undergoing lung transplantation and have emerged as one of the predominant risk factors for primary graft dysfunction which limits short-term survival following lung transplantation. Additionally, LRA have been shown to predispose to chronic lung allograft rejection, the predominant cause of poor long-term survival. This review will discuss ongoing research into the mechanisms of development of LRA as well as the pathogenesis of associated lung allograft injury.

IF:2.2

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