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Genes and Immunity

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https://www.readbyqxmd.com/read/28703132/association-of-a-functional-tnf-variant-with-plasmodium-falciparum-parasitaemia-in-a-congolese-population
#1
T N Nguyen, S Baaklini, F Koukouikila-Koussounda, M Ndounga, M Torres, L Pradel, F Ntoumi, P Rihet
Several studies have provided evidence of both helpful and harmful effects of TNF on the outcome of Plasmodium falciparum malaria infection. Several TNF polymorphisms that are located within non-coding regions have been associated with parasitaemia, mild malaria or severe malaria. We investigated the association of TNF1304 (rs3093664), TNF-308 (rs1800629), TNF-238 (rs361525) and TNF-244 (rs673) with mild malaria and symptomatic maximum parasitaemia in a population-based design (n=310). We obtained nominal evidence for an association between symptomatic maximum parasitaemia and TNF-308, TNF-238, and TNF-244 on the one hand, and between the number of mild malaria attacks and TNF-244 on the other hand...
July 13, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28703131/egfr-rs11506105-and-ifnl3-snps-but-not-rs8099917-are-strongly-associated-with-treatment-responses-in-iranian-patients-with-chronic-hepatitis-c
#2
M Asnavandi, M Zargar, F Vaziri, F R Jamnani, S Gharibzadeh, A Fateh, S D Siadat
Interferon lambda 3 (IFNL3) and epidermal growth factor receptor (EGFR) single nucleotide polymorphisms (SNPs) may play a key role in the spontaneous clearance of hepatitis C virus (HCV) and treatment responses. The aim of this study was to evaluate the effect of IFNL3 SNPs and EGFR rs11506105 on treatment outcomes in patients with chronic HCV (CHC). IFNL3 SNPs and EGFR rs11506105 were genotyped by PCR-restriction fragment length polymorphism and PCR-sequencing, respectively, in 235 naïve patients with CHC infection...
July 13, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28621304/epigenetic-and-gene-expression-analysis-of-ankylosing-spondylitis-associated-loci-implicate-immune-cells-and-the-gut-in-the-disease-pathogenesis
#3
Z Li, K Haynes, D J Pennisi, L K Anderson, X Song, G P Thomas, T Kenna, P Leo, M A Brown
Ankylosing spondylitis (AS) is a common immune-mediated arthropathy primarily affecting the spine and pelvis. Most AS patients have subclinical intestinal inflammation, suggesting the gut microbiome and the immune response play a role in pathogenesis. Susceptibility to AS is primarily genetic, and at least 114 susceptibility variants have been identified to date. We applied bioinformatic methods utilizing epigenetic and gene and protein expression data to identify the cell types through which AS-associated variants operate...
June 15, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28569259/revealing-complete-complex-kir-haplotypes-phased-by-long-read-sequencing-technology
#4
D Roe, C Vierra-Green, C-W Pyo, K Eng, R Hall, R Kuang, S Spellman, S Ranade, D E Geraghty, M Maiers
The killer cell immunoglobulin-like receptor (KIR) region of human chromosome 19 contains up to 16 genes for natural killer (NK) cell receptors that recognize human leukocyte antigen (HLA)/peptide complexes and other ligands. The KIR proteins fulfill functional roles in infections, pregnancy, autoimmune diseases and transplantation. However, their characterization remains a constant challenge. Not only are the genes highly homologous due to their recent evolution by tandem duplications, but the region is structurally dynamic due to frequent transposon-mediated recombination...
June 1, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28539651/an-orthologous-non-mhc-locus-in-rats-and-mice-is-linked-to-cd4-and-cd8-t-cell-proportion
#5
D Franckaert, R Collin, J Dooley, R H Wallis, P Poussier, A Liston, E E Hillhouse, S Lesage
CD4(+) and CD8(+) T cells have a central role in the immune system due to their ability to protect against infection and cancer development without targeting self. Consequently, changes in CD4(+) and CD8(+) T-cell homeostasis can be indicative of an array of serious illnesses, ranging from viral infections to autoimmune diseases. In addition to environmental influences, there is evidence for a genetic component regulating the proportion of CD4(+) and CD8(+) T cells in lymphoid organs. Indeed, identifying the genetic determinants defining the frequency of the T-cell subsets is critical as it may reveal a targetable genetic pathway to modulate CD4(+) and CD8(+) T-cell numbers, which could be of clinical relevance for multiple disease settings...
May 25, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28490805/a-skint6-allele-potentially-contributes-to-mouse-lupus
#6
Z Xu, J Xu, J Ju, L Morel
Our previous study uncovered that the overlapping region of murine lupus susceptibility Sle2c1rec1a and Sle2c1rec1d subloci is strongly associated with lymphadenopathy and systemic autoimmunity. In order to identify the specific candidate gene, we generated a novel shorter recombinant, named as Sle2c1re1d1 (rec1d1), from Sle2c1rec1d sublocus (rec1d). The rec1d1 interval corresponds precisely to the overlapping region of Sle2c1rec1a and Sle2c1rec1d subloci. Functionally, this rec1d1 sublocus showed a strong epistatic interaction with lpr, similar to that seen with Sle2c1rec1a or...
May 11, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28300058/identification-of-differentially-expressed-mirnas-in-alopecia-areata-that-target-immune-regulatory-pathways
#7
E H C Wang, G M DeStefano, A V Patel, E Drill, S Harel, C Cela, M Tavazoie, A M Christiano
No abstract text is available yet for this article.
March 16, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28446790/vav1-regulates-experimental-autoimmune-arthritis-and-is-associated-with-anti-ccp-negative-rheumatoid-arthritis
#8
A O Guerreiro-Cacais, U Norin, A Gyllenberg, R Berglund, A D Beyeen, E Petit-Teixeira, F Cornélis, A Saoudi, G J Fournié, R Holmdahl, L Alfredsson, L Klareskog, M Jagodic, T Olsson, I Kockum, L Padyukov
No abstract text is available yet for this article.
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28381868/investigation-of-a-possible-extended-risk-haplotype-in-the-il23r-region-associated-with-ankylosing-spondylitis
#9
A R Roberts, M Vecellio, A Cortes, J C Knight, C J Cohen, B P Wordsworth
The IL23R region on chromosome 1 exhibits complex associations with ankylosing spondylitis (AS). We used publicly available epigenomic information and historical genetic association data to identify a putative regulatory element (PRE) in the intergenic region between IL23R and IL12RB2, which includes two single-nucleotide polymorphisms (SNPs) independently associated with AS-rs924080 (P=2 × 10(-3)) and rs11578380 (P=2 × 10(-4)). In luciferase reporter assays, this PRE showed silencer activity (P<0.001)...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28332560/evaluating-genetic-susceptibility-to-staphylococcus-aureus-bacteremia-in-african-americans-using-admixture-mapping
#10
D D Cyr, A S Allen, G-J Du, F Ruffin, C Adams, J T Thaden, S A Maskarinec, M Souli, S Guo, D M Dykxhoorn, W K Scott, V G Fowler
The incidence of Staphylococcus aureus bacteremia (SAB) is significantly higher in African American (AA) than in European-descended populations. We used admixture mapping (AM) to test the hypothesis that genomic variations with different frequencies in European and African ancestral genomes influence susceptibility to SAB in AAs. A total of 565 adult AAs (390 cases with SAB; 175 age-matched controls) were genotyped for AM analysis. A case-only admixture score and a mixed χ(2)(1df) score (MIX) to jointly evaluate both single-nucleotide polymorphism (SNP) and admixture association (P<5...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28332559/the-immunogenetics-of-narcolepsy-associated-with-a-h1n1-pdm09-vaccination-pandemrix-supports-a-potent-gene-environment-interaction
#11
MULTICENTER STUDY
I L Bomfim, F Lamb, K Fink, A Szakács, A Silveira, L Franzén, V Azhary, M Maeurer, N Feltelius, N Darin, T Hallböök, L Arnheim-Dahlström, I Kockum, T Olsson
The influenza A(H1N1)pdm09 vaccination campaign from 2009 to 2010 was associated with a sudden increase in the incidence of narcolepsy in several countries. Narcolepsy with cataplexy is strongly associated with the human leukocyte antigen (HLA) class II DQB1*06:02 allele, and protective associations with the DQB1*06:03 allele have been reported. Several non-HLA gene loci are also associated, such as common variants of the T-cell receptor-α (TRA), the purinergic receptor P2RY11, cathepsin H (CTSH) and TNFSF4/OX40L/CD252...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28300059/genetic-basis-for-variation-in-plasma-il-18-levels-in-persons-with-chronic-hepatitis-c-virus-and-human-immunodeficiency-virus-1-infections
#12
C Vergara, C Thio, R Latanich, A L Cox, G D Kirk, S H Mehta, M Busch, E L Murphy, M C Villacres, M G Peters, A L French, E Golub, J Eron, C D Lahiri, S Shrestha, D Gustafson, M Young, K Anastos, B Aouizerat, A Y Kim, G Lauer, D L Thomas, P Duggal
Inflammasomes are multi-protein complexes integrating pathogen-triggered signaling leading to the generation of pro-inflammatory cytokines including interleukin-18 (IL-18). Hepatitis C virus (HCV) and human immunodeficiency virus (HIV) infections are associated with elevated IL-18, suggesting inflammasome activation. However, there is marked person-to-person variation in the inflammasome response to HCV and HIV. We hypothesized that host genetics may explain this variation. To test this, we analyzed the associations of plasma IL-18 levels and polymorphisms in 10 genes in the inflammasome cascade...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28275240/polygenic-risk-assessment-reveals-pleiotropy-between-sarcoidosis-and-inflammatory-disorders-in-the-context-of-genetic-ancestry
#13
C A Lareau, C F DeWeese, I Adrianto, C J Lessard, P M Gaffney, M C Iannuzzi, B A Rybicki, A M Levin, C G Montgomery
Sarcoidosis is a complex disease of unknown etiology characterized by the presence of granulomatous inflammation. Though various immune system pathways have been implicated in disease, the relationship between the genetic determinants of sarcoidosis and other inflammatory disorders has not been characterized. Herein, we examined the degree of genetic pleiotropy common to sarcoidosis and other inflammatory disorders to identify shared pathways and disease systems pertinent to sarcoidosis onset. To achieve this, we quantify the association of common variant polygenic risk scores from nine complex inflammatory disorders with sarcoidosis risk...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28123183/epistatic-effect-of-tlr-1-6-and-10-polymorphisms-on-organic-dust-mediated-cytokine-response
#14
L M Smith, L A Weissenburger-Moser, A J Heires, K L Bailey, D J Romberger, T D LeVan
Exposure to organic dust from agricultural environments is associated with inflammatory respiratory conditions. The putative causal agents in organic dust include viral, microbial and fungal components, which are recognized by the family of Toll-like receptors (TLRs) and drive host innate and adaptive responses. Our aim in this study was to determine whether responsiveness to organic dust among agricultural workers was dependent on polymorphisms in the TLR10-TLR1-TLR6 gene cluster. We stimulated whole blood from 509 agricultural workers with organic dust, triacyl lipopeptide N-palmitoyl-S-dipalmitoylglyceryl Cys-Ser-(Lys)4 (Pam3CSK4) and the diacyl-lipopeptide peptidoglycan...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28077880/interleukin-2-receptor-%C3%AE-proximal-promoter-hypomethylation-is-associated-with-multiple-sclerosis
#15
J Field, A Fox, M A Jordan, A G Baxter, T Spelman, M Gresle, H Butzkueven, T J Kilpatrick, J P Rubio
Genetic studies have demonstrated association between single-nucleotide polymorphisms within the IL2RA (interleukin-2 receptor α-subunit) gene and risk of developing multiple sclerosis (MS); however, these variants do not have obvious functional consequences. DNA methylation is a source of genetic variation that could impact on autoimmune disease risk. We investigated DNA methylation of the IL2RA promoter in genomic DNA obtained from peripheral blood mononuclear cells and neural tissue using matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF) mass spectrometry...
March 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28053322/vav1-regulates-experimental-autoimmune-arthritis-and-is-associated-with-anti-ccp-negative-rheumatoid-arthritis
#16
COMPARATIVE STUDY
A O Guerreiro-Cacais, U Norin, A Gyllenberg, R Berglund, A D Beyeen, E Petit-Teixeira, F Cornélis, A Saoudi, G J Fournié, R Holmdahl, L Alfredsson, L Klareskog, M Jagodic, T Olsson, I Kockum, L Padyukov
Rheumatoid arthritis (RA) patients can be stratified into two subgroups defined by the presence or absence of antibodies against citrullinated circular peptides (anti-CCP) with most of the genetic association found in anti-CCP positive RA. Here we addressed the role of VAV1, previously associated to multiple sclerosis (MS), in the pathogenesis of RA in experimental models and in a genetic association study. Experimental arthritis triggered by pristane or collagen type II was induced in DA rats and in the DA...
January 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28053321/functionality-and-opposite-roles-of-two-interleukin-4-haplotypes-in-immune-cells
#17
COMPARATIVE STUDY
G Anovazzi, M C Medeiros, S C Pigossi, L S Finoti, T M Souza Moreira, M P A Mayer, C F Zanelli, S R Valentini, C Rossa-Junior, R M Scarel-Caminaga
Cytokines expression can be influenced by polymorphisms in their respective coding genes. We associated the CTI/TTD haplotype (Hap-1) and TCI/CCI haplotype (Hap-2) in the IL4 gene formed by the -590, +33 and variable number of tandem repeat polymorphisms with the severity of chronic periodontitis in humans. The functionality of these IL4 haplotypes in the response of immune cells to phorbol 12-myristate 13-acetate (PMA) with Ionomycin and IL-1β (as inflammatory stimuli) was evaluated. Gene expression (quantitative real-time PCR), profile of secreted cytokines (multiplex) and phenotypic polarization of T cells (flow cytometry) were the outcomes assessed...
January 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28053320/direct-measurement-of-b-cell-receptor-repertoire-s-composition-and-variation-in-systemic-lupus-erythematosus
#18
COMPARATIVE STUDY
S Liu, X L Hou, W G Sui, Q J Lu, Y L Hu, Y Dai
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that is known to be associated with polyclonal B-cell hyper-reactivity. B-cell receptor (BCR) has a central role in B-cell development, activation, survival and apoptosis, and thus is a critical component of the regulation of both protective and autoreactive B cells. In this study, we applied multiplex PCR and Illumina high-throughput sequencing to study the composition and variation of the BCRs in peripheral blood mononuclear cells from SLE patients and healthy donors (NC)...
January 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28053319/pre-diagnostic-genotyping-identifies-t1d-subjects-with-impaired-treg-il-2-signaling-and-an-elevated-proportion-of-foxp3-il-17-cells
#19
A K Marwaha, C Panagiotopoulos, C M Biggs, S Staiger, K L Del Bel, A F Hirschfeld, J J Priatel, S E Turvey, R Tan
T-regulatory cells (Tregs) are essential for immune tolerance, and animal studies implicate their dysfunction in type 1 diabetes (T1D) pathogenesis. Tregs require interleukin-2 (IL-2) for their suppressive function, and variants in IL-2/IL-2R pathway genes have been associated with T1D. We previously reported that recent-onset T1D subjects have an increased population of FOXP3(lo) Tregs that secrete the pro-inflammatory cytokine, interleukin-17 (IL-17). We hypothesize that IL-2 signaling defects may drive T1D development by skewing protective Tregs towards an inflammatory Th17 phenotype...
January 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28031553/genetic-origin-of-beh%C3%A3-et-s-disease-population-in-denizli-turkey-population-genetics-data-analysis-historical-demography-and-geographical-perspectives-based-on-%C3%AE-globin-gene-cluster-haplotype-variation
#20
COMPARATIVE STUDY
O Ozturk, S Arikan, A Bahadir, A Atalay, E O Atalay
In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the β-globin gene cluster of normal and Behçet's disease (BD) population in Denizli, Turkey. We examined blood DNA samples obtained from our DNA bank. The association of population genetic parameters such as haplotypes, diversity, differentiation, Hardy-Weinberg equilibrium and demographic analysis for two populations was performed by Arlequin ver. 3.5. Our results show that both populations have high similarity in genetic parameters in terms of development and expansion based on haplotype diversity through the history...
January 2017: Genes and Immunity
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