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BAFF polymorphisms

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https://www.readbyqxmd.com/read/27780742/association-of-a-tnfsf13b-baff-regulatory-region-single-nucleotide-polymorphism-with-response-to-rituximab-in-anca-associated-vasculitis
#1
Federico Alberici, Rona M Smith, Mariana Fonseca, Lisa C Willcocks, Rachel B Jones, Julia U Holle, Stefan Wieczorek, Thomas Neumann, Davide Martorana, Gina Gregorini, Renato A Sinico, Annette Bruchfeld, Iva Gunnarsson, Sophie Ohlsson, Bo Baslund, Vladimir Tesar, Zdenka Hruskova, Maria C Cid, Augusto Vaglio, Paul A Lyons, Kenneth G C Smith, David R W Jayne
In ANCA-associated vasculitis (AAVs) response to rituximab is highly variable and predictors of response are needed. Our study identifies a single nucleotide polymorphism of the regulatory region of TNFSF13B (BAFF) associated with response to rituximab in AAV.
October 22, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27692391/methylene-tetrahydrofolate-reductase-transforming-growth-factor-%C3%AE-1-and-lymphotoxin-%C3%AE-genes-polymorphisms-and-susceptibility-to-rheumatoid-arthritis
#2
Olfat G Shaker, Amina M Alnoury, Gehan A Hegazy, Hemmat E El Haddad, Safaa Sayed, Ahmed Hamdy
BACKGROUND: Rheumatoid arthritis is a widely prevalent autoimmune disorder with suggested genetic predisposition. OBJECTIVES: The aim of this study is to detect the pattern of genetic polymorphism of methylene tetrahydrofolate reductase (MTHFR C677 T and A1298 C), transforming growth factor-β1 (TGF-β1 T869 C) and lymphotoxin-α (LT-α A252G) in patients having rheumatoid arthritis and correlate these patterns to disease activity and serum levels of tumor necrosis factor-alpha (TNF-α), B-Cell Activating Factor (BAFF), and osteopontin...
September 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27468724/association-of-variants-in-baff-rs9514828-and-rs1041569-and-baff-r-rs61756766-genes-with-the-risk-of-chronic-lymphocytic-leukemia
#3
Monika Jasek, Agnieszka Bojarska-Junak, Marta Wagner, Maciej Sobczyński, Dariusz Wołowiec, Jacek Roliński, Lidia Karabon, Piotr Kuśnierczyk
The B-cell activator factor (BAFF)/BAFF receptor (BAFF-R) axis seems to play an important role in the development and progression of chronic lymphocytic leukemia (CLL). Here, we investigated the association of eight single nucleotide polymorphisms (SNPs) in the BAFF (TNFSF13B) and BAFF-R (TNFRSF13C) genes with risk of sporadic CLL in a group of 439 CLL patients and 477 controls. We also examined the correlation between selected SNPs and CLL clinical parameters as well as BAFF plasma levels and intracellular BAFF expression...
October 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/27156115/methylene-tetrahydrofolate-reductase-transforming-growth-factor-%C3%AE-1-and-lymphotoxin-%C3%AE-genes-polymorphisms-and-susceptibility-to-rheumatoid-arthritis
#4
Olfat G Shaker, Amina M Alnoury, Gehan A Hegazy, Hemmat E El Haddad, Safaa Sayed, Ahmed Hamdy
BACKGROUND: Rheumatoid arthritis is a widely prevalent autoimmune disorder with suggested genetic predisposition. OBJECTIVES: The aim of this study is to detect the pattern of genetic polymorphism of methylene tetrahydrofolate reductase (MTHFR C677T and A1298C), transforming growth factor-β1 (TGF-β1 T869C) and lymphotoxin-α (LT-α A252G) in patients having rheumatoid arthritis and correlate these patterns to disease activity and serum levels of tumor necrosis factor-alpha (TNF-α), B-Cell Activating Factor (BAFF), and osteopontin...
April 18, 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27136204/analysis-of-associations-of-human-baff-gene-polymorphisms-with-autoimmune-thyroid-diseases
#5
Jiunn-Diann Lin, Shun-Fa Yang, Yuan-Hung Wang, Wen-Fang Fang, Ying-Chin Lin, Yuh-Feng Lin, Kam-Tsun Tang, Mei-Yi Wu, Chao-Wen Cheng
BACKGROUND: The B-lymphocyte-activating factor (BAFF) is associated with B-cell functions, and gene polymorphisms of the BAFF have been linked to autoimmune diseases (AIDs). In this study, we explored possible associations of two BAFF single-nucleotide polymorphisms (SNPs), rs1041569 and rs2893321, with autoimmune thyroid diseases (AITDs) in an ethnic Chinese population. MATERIAL AND METHODS: In total, 319 Graves' disease (GD), 83 Hashimoto's thyroiditis (HT) patients, and 369 healthy controls were enrolled...
2016: PloS One
https://www.readbyqxmd.com/read/26268376/polymorphisms-in-genes-of-the-baff-april-system-may-constitute-risk-factors-of-b-cll-a-preliminary-study-on-a-polish-population
#6
M Jasek, M Wagner, M Sobczynski, D Wolowiec, K Kuliczkowski, D Woszczyk, M Kielbinski, P Kusnierczyk, I Frydecka, L Karabon
The association of single-nucleotide polymorphisms (SNPs) of B-cell activating factor (BAFF)/a proliferation-inducing ligand (APRIL) system with B-cell chronic lymphocytic leukemia (B-CLL) have been suggested, therefore, we investigated 20 SNPs of BAFF, APRIL, BAFF-R, transmembrane activator and calcium modulator and cyclophilin-ligand interactor (TACI), B-cell maturation antigen (BCMA) genes and the risk and outcome of B-CLL in 187 patients and 296 healthy subjects as well as ligand-receptor gene × gene interactions...
October 2015: Tissue Antigens
https://www.readbyqxmd.com/read/25800158/association-of-baff-871c-t-promoter-polymorphism-with-hepatitis-c-related-mixed-cryoglobulinemia-in-a-cohort-of-egyptian-patients
#7
Mona Wagdy Ayad, Amany A Elbanna, Dalia A Elneily, Amany S Sakr
BACKGROUND: Hepatitis C infection is a major health problem worldwide, especially in Egypt. The high prevalence of mixed cryoglobulinemia (MC) in hepatitis C patients leads to the assumption that there is a direct link between hepatitis C virus (HCV) and cryoglobulinemia. Host genetic factors could be a contributing factor. B cell-activating factor (BAFF) is a tumor necrosis factor (TNF) family member, which has an essential role in B lymphocyte development and survival. The aim of the present work was to study the possible association between the BAFF -871C/T promoter polymorphism and HCV-related MC in a cohort of Egyptian patients...
April 2015: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/25626600/b-cell-biomarkers-in-transplantation-from-genes-to-therapy
#8
REVIEW
G D Banham, M R Clatworthy
An increased understanding of the mechanisms by which the immune system mounts a response to transplanted organs has allowed the development of immunosuppressive regimens that limit acute T-cell-mediated rejection (TCMR). However, the treatment of acute and chronic antibody-mediated rejection (ABMR) in kidney transplants remains sub-optimal. The occurrence and severity of antibody-mediated graft pathology are variable, and genetic polymorphisms that affect the magnitude and nature of the B-cell response, as well as effector functions of antibody, are likely to contribute to such phenotypic variation...
February 2015: Tissue Antigens
https://www.readbyqxmd.com/read/25351849/phase-ii-study-of-personalized-peptide-vaccination-for-previously-treated-advanced-colorectal-cancer
#9
Shiro Kibe, Shigeru Yutani, Satoru Motoyama, Takanobu Nomura, Natsuki Tanaka, Akihiko Kawahara, Tomohiko Yamaguchi, Satoko Matsueda, Nobukazu Komatsu, Masatomo Miura, Yudai Hinai, Satoshi Hattori, Akira Yamada, Masayoshi Kage, Kyogo Itoh, Yoshito Akagi, Tetsuro Sasada
The prognosis of advanced colorectal cancer (aCRC) remains poor, and development of new therapeutic approaches, including immunotherapy, is needed urgently. Herein we report on our phase II study of personalized peptide vaccination (PPV) in 60 previously treated patients with aCRC, who had failed at least one regimen of standard chemotherapy and/or targeted therapy. For PPV, a maximum of four HLA-matched peptides were individually selected from a pool of 31 different peptide candidates based on preexisting host immunity, and administered subcutaneously without severe adverse events...
December 2014: Cancer Immunology Research
https://www.readbyqxmd.com/read/25036569/immune-complex-mediated-autoimmunity-in-a-patient-with-smith-magenis-syndrome-del-17p11-2
#10
REVIEW
Jianying Yang, Settara C Chandrasekharappa, Thierry Vilboux, Ann C M Smith, Erik J Peterson
Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS patients may exhibit hypogammaglobulinemia. We report the first case of SMS-associated autoimmunity in a woman who presented with adult onset of multiple autoimmune disorders, including systemic lupus erythematosus, antiphospholipid antibody syndrome, and autoimmune hepatitis...
August 2014: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/24906685/the-strength-of-the-antibody-response-to-the-nematode-ascaris-lumbricoides-inversely-correlates-with-levels-of-b-cell-activating-factor-baff
#11
Adriana Bornacelly, Dilia Mercado, Nathalie Acevedo, Luis Caraballo
BACKGROUND: B-Cell Activating Factor (BAFF) is a cytokine regulating antibody production. Polymorphisms in the gene encoding BAFF were associated with the antibody response to Ascaris but not to mite allergens. In the present study we evaluated the relationship between BAFF and specific antibodies against Ascaris and mites in 448 controls and 448 asthmatics. Soluble BAFF was measured by ELISA and BAFF mRNA by qPCR. Surface expression of BAFF and its receptor (BAFF-R) was analyzed by flow cytometry...
2014: BMC Immunology
https://www.readbyqxmd.com/read/24827633/cytokines-in-common-variable-immunodeficiency-as-signs-of-immune-dysregulation-and-potential-therapeutic-targets-a-review-of-the-current-knowledge
#12
REVIEW
Farnaz Najmi Varzaneh, Bärbel Keller, Susanne Unger, Asghar Aghamohammadi, Klaus Warnatz, Nima Rezaei
Common variable immunodeficiency (CVID) is characterized by low levels of circulating immunoglobulins and compromised specific antibody response leading to frequent infections. Cytokines play an important role in the orchestration of the antibody response. Several previous studies have attempted to identify distinct cytokines responsible for the inflammatory changes and different manifestations of CVID, but there are conflicting results regarding the cytokine profiles in CVID patients. In light of this, an extensive review regarding the level of various cytokines and their potential therapeutic role in CVID patients was performed...
July 2014: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/23884224/b-cell-activating-factor-promoter-polymorphisms-in-egyptian-patients-with-systemic-lupus-erythematosus
#13
COMPARATIVE STUDY
Rania A Zayed, Hala F Sheba, Mennat Allah K Abo Elazaem, Zainab A Elsaadany, Lobna O Elmessery, Jelan A Mahmoud, Dalia R Abdel Rahman, Faten R Abdou
BACKGROUND: Systemic lupus erythematosus (SLE) is a heterogonous autoimmune disease involving most immune cells. Studies have revealed a number of cytokine pathways that play important roles in the disease process. Among these is B- cell activating factor (BAFF), which regulates B-cell maturation, survival, and function. OBJECTIVE: To study the association between BAFF promoter polymorphism and systemic lupus erythematosus (SLE). METHODS: Single nucleotide polymorphisms in the BAFF promoter region; -2841 (T>C), -2701 (T>A), -871 (C>T) were investigated by PCR-RFLP genotyping in fifty Egyptian SLE patients and thirty normal controls...
2013: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/23872737/biologic-markers-of-chronic-gvhd
#14
REVIEW
J Pidala, M Sarwal, S Roedder, S J Lee
Biologic markers of chronic GVHD may provide insight into the pathogenesis of the syndrome, identify molecular targets for novel interventions, and facilitate advances in clinical management. Despite extensive work performed to date largely focused on prediction and diagnosis of the syndrome, little synthesis of findings and validation of promising candidate markers in independent populations has been performed. Studies suggest that risk for subsequent chronic GVHD development may be associated with donor-recipient genetic polymorphism, deficiency in regulatory immune cell populations (NK, Treg, DC2), and variation in inflammatory and immunoregulatory mediators post-HCT (increased TNFα, IL-10 and BAFF, and decreased TGFβ and IL-15)...
March 2014: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/23845207/b-cell-activating-factor-genetic-variants-in-lymphomagenesis-associated-with-primary-sjogren-s-syndrome
#15
Adrianos Nezos, Aristea Papageorgiou, George Fragoulis, Dimitrios Ioakeimidis, Michael Koutsilieris, Athanasios G Tzioufas, Haralampos M Moutsopoulos, Michael Voulgarelis, Clio P Mavragani
Primary Sjogren's syndrome (pSS) is complicated by B-cell lymphoma in 5-10% of patients. Several clinical and serological features are proposed as adverse predictors for such complication and define a high risk pSS phenotype. We aimed to explore whether previously described polymorphisms of the B-cell activating factor (BAFF) could be related to pSS-related lymphomagenesis. Five single nucleotide polymorphisms (SNPs) of the BAFF gene (rs1224141, rs12583006, rs9514828, rs1041569 and the rs9514827) were evaluated in 111 low risk pSS patients (type II), 82 high risk/lymphoma patients (type I) and 137 healthy controls (HC) by PCR-based assays...
June 2014: Journal of Autoimmunity
https://www.readbyqxmd.com/read/23264555/association-between-871c-t-promoter-polymorphism-in-the-b-cell-activating-factor-gene-and-the-response-to-rituximab-in-rheumatoid-arthritis-patients
#16
RANDOMIZED CONTROLLED TRIAL
Adeline Ruyssen-Witrand, Stéphanie Rouanet, Bernard Combe, Maxime Dougados, Xavier Le Loët, Jean Sibilia, Jacques Tebib, Xavier Mariette, Arnaud Constantin
OBJECTIVE: To determine whether a functional single-nucleotide polymorphism in the B-cell activating factor (BAFF) gene correlates with the response to treatment with rituximab (RTX) in RA. METHODS: SMART is a randomized open trial (NCT01126541) assessing two strategies of re-treatment in patients responding to 1-g infusion of RTX with MTX on days 1 and 15 after failure, intolerance or contraindication to TNF blockers. Among the 224 patients included, 115 provided informed consent, could be genotyped and were included in an ancillary study of SMART assessing European League Against Rheumatism (EULAR) response rate after the first course of RTX according to BAFF-871C>T polymorphism...
April 2013: Rheumatology
https://www.readbyqxmd.com/read/23251602/variation-in-dicer-gene-is-associated-with-increased-survival-in-t-cell-lymphoma
#17
Xi Li, Xiaobo Tian, Bo Zhang, Yanqi Zhang, Jieping Chen
Dicer, an endonuclease in RNase III family, is essential for the RNA interference (RNAi) pathway. Aberrant expression of Dicer has been shown in various cancers including some subtypes of T cell lymphoma (TCL), which influences patient prognosis. A single-nucleotide polymorphism (SNP) rs3742330A>G has been identified in the Dicer gene, located in the 3' untranslated region (3' UTR) that is important for mRNA transcript stability. We investigated whether rs3742330 is associated with the survival in 163 TCL patients...
2012: PloS One
https://www.readbyqxmd.com/read/22928528/expression-of-genes-involved-in-susceptibility-to-multifactorial-autoimmune-diseases-estimating-genotype-effects
#18
E Rocha Amazonas de Almeida, M L Petzl-Erler
Several single nucleotide polymorphisms (SNPs) have been associated with susceptibility to autoimmune diseases, but the mechanisms responsible for the associations are poorly understood. To test the hypothesis that the variation of the basal levels of the gene products is significantly influenced by genetic polymorphism, we investigated whether SNPs in genes CD40, CD28, CTLA4, CD80, CD86, BAFF and IL6 are affecting mRNA or protein expression. The surface expression of the proteins on unstimulated monocytes, B cells, NK cells, CD4+ T cells and CD8+ T cells, as well as the mRNA levels in peripheral blood mononuclear cells (PBMC) was compared among healthy volunteers with different genotypes...
June 2013: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/22749832/the-complexity-of-the-baff-tnf-family-members-implications-for-autoimmunity
#19
REVIEW
Ayan Lahiri, Pierre Pochard, Laëtitia Le Pottier, Gabriel J Tobón, Boutahar Bendaoud, Pierre Youinou, Jacques-Olivier Pers
The B-cell activating factor belonging to the tumor-necrosis factor family BAFF contributes to autoimmune disorders. As such, BAFF might become a therapeutic target. However, this molecule has pleiotropic effects that are as numerous as they are varied. The real effect of each form (spliced, glycosylated, membrane bound, soluble, homotrimerized, heterotrimerized, multimerized) has not been well characterized yet. Consequently, conflicting results, regarding the serum concentrations of BAFF or its functional effect, exist in literature...
September 2012: Journal of Autoimmunity
https://www.readbyqxmd.com/read/22699762/three-different-classifications-b-lymphocyte-subpopulations-tnfrsf13b-taci-tnfrsf13c-baff-r-tnfsf13-april-gene-mutations-ctla-4-and-icos-gene-polymorphisms-in-turkish-patients-with-common-variable-immunodeficiency
#20
Necil Kutukculer, Nesrin Gulez, Neslihan E Karaca, Guzide Aksu, Afig Berdeli
B lymphocyte subpopulations, previously defined classification schemes (Freiburg, Paris, EuroClass), TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms were analyzed in 25 common variable immunodeficiency (CVID) patients and 25 healthy controls. Patients were also divided into two subgroups due to some disease severity criteria. SG (severe disease group) (n:11) included patients who have splenomegaly and/or granulomatous diseases and/or bronchiectasis and/or lower baseline IgG values (<270 mg/dl)...
December 2012: Journal of Clinical Immunology
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