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https://www.readbyqxmd.com/read/27813554/association-of-interferon-induced-helicase-c-domain-ifih1-gene-polymorphisms-with-systemic-lupus-erythematosus-and-a-relevant-updated-meta-analysis
#1
J De Azevedo Silva, S C Lima, C Addobbati, R Moura, L A Cavalcanti Brandão, J A Trés Pancoto, E A Donadi, S Crovella, P Sandrin-Garcia
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder presenting heterogeneous clinical manifestations. A number of genes involved in SLE susceptibility are related to the type I interferon (IFN) pathway. IFN mediates innate immune responses and its increased levels contribute to the breakdown of peripheral tolerance. Interferon-induced helicase C domain 1 (IFIH1) activates and modulates IFN responses through its caspase recruitment domain. In this study, we analyzed four IFIH1 single nucleotide polymorphisms (SNPs): rs6432714, rs10930046, rs1990760, and rs3747517, in 337 patients with SLE and 373 healthy individuals from southeast and northeast Brazil...
October 24, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27810495/psoriasis-risk-snps-and-their-association-with-hiv-1-control
#2
Joanne Nititham, Rashmi Gupta, Xue Zeng, Wendy Hartogensis, Douglas F Nixon, Steven G Deeks, Frederick M Hecht, Wilson Liao
Human evolution has resulted in selection for genetic polymorphisms beneficial in the defense against pathogens. However, such polymorphisms may have the potential to heighten the risk of autoimmune disease. Here, we investigated whether psoriasis-associated single nucleotide polymorphisms influence host control of HIV-1 infection. We studied psoriasis and viral immune response variants in three HIV-positive cohorts: (1) HIV-1 controllers and non-controllers in the Study of the Consequences of the Protease Inhibitor Era (SCOPE) cohort (n=366), (2) Individuals with primary HIV infection in the Options cohort (n=675), and (3) HIV-positive injection drug users from the Urban Health Study (UHS) (n=987)...
October 31, 2016: Human Immunology
https://www.readbyqxmd.com/read/27723758/common-variants-at-pvt1-atg13-ambra1-ahi1-and-clec16a-are-associated-with-selective-iga-deficiency
#3
Paola G Bronson, Diana Chang, Tushar Bhangale, Michael F Seldin, Ward Ortmann, Ricardo C Ferreira, Elena Urcelay, Luis Fernández Pereira, Javier Martin, Alessandro Plebani, Vassilios Lougaris, Vanda Friman, Tomáš Freiberger, Jiri Litzman, Vojtech Thon, Qiang Pan-Hammarström, Lennart Hammarström, Robert R Graham, Timothy W Behrens
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10(-8)) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10(-11); ATG13-AMBRA1, P = 6.7 × 10(-10); AHI1, P = 8.4 × 10(-10); CLEC16A, P = 1.4 × 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells...
November 2016: Nature Genetics
https://www.readbyqxmd.com/read/27720759/multiple-functional-variants-of-ifih1-a-gene-involved-in-triggering-innate-immune-responses-protect-against-vitiligo
#4
Ying Jin, Genevieve H L Andersen, Stephanie A Santorico, Richard A Spritz
No abstract text is available yet for this article.
October 5, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27716086/association-of-cd247-cd3%C3%AE-gene-polymorphisms-with-t1d-and-aitd-in-the-population-of-northern-sweden
#5
Dan Holmberg, Karin Ruikka, Petter Lindgren, Mats Eliasson, Sofia Mayans
BACKGROUND: T1D and AITD are autoimmune disorders commonly occurring in the same family and even in the same individual. The genetic contribution to these disorders is complex making uncovering of susceptibility genes very challenging. The general aim of this study was to identify loci and genes contributing to T1D/AITD susceptibility. Our strategy was to perform linkage and association studies in the relatively genetically homogenous population of northern Sweden. We performed a GWLS to find genomic regions linked to T1D/AITD in families from northern Sweden and we performed an association study in the families to test for association between T1D/AITD and variants in previously published candidate genes as well as a novel candidate gene, CD247...
October 4, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27690330/mapping-of-a-feb3-homologous-febrile-seizure-locus-on-mouse-chromosome-2-containing-candidate-genes-scn1a-and-scn3a
#6
Ellen V S Hessel, Hein A van Lith, Inge G Wolterink-Donselaar, Marina de Wit, Marian J A Groot Koerkamp, Frank C P Holstege, Martien J H Kas, Cathy Fernandes, Pierre N E de Graan
Febrile seizures (FS) are the most common seizure type in children. Recurrent FS are a risk factor for developing temporal lobe epilepsy later in life and are known to have a strong genetic component. Experimental FS (eFS) can be elicited in mice by warm-air induced hyperthermia. We used this model to screen the chromosome substitution strain (CSS) panel derived from C57BL/6J and A/J for FS susceptibility and identified C57BL/6J-Chr2(A) /NaJ (CSS2), as the strain with the strongest FS susceptibility phenotype...
September 30, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27672125/contrasting-expression-pattern-of-rna-sensing-receptors-tlr7-rig-i-and-mda5-in-interferon-positive-and-interferon-negative-patients-with-primary-sj%C3%A3-gren-s-syndrome
#7
Naomi I Maria, Eline C Steenwijk, Arne S IJpma, Cornelia G van Helden-Meeuwsen, Petra Vogelsang, Wouter Beumer, Zana Brkic, Paul L A van Daele, P Martin van Hagen, Peter J van der Spek, Hemmo A Drexhage, Marjan A Versnel
OBJECTIVE: The interferon (IFN) type I signature is present in over half of patients with primary Sjögren's syndrome (pSS) and associated with higher disease-activity and autoantibody presence. Plasmacytoid dendritic cells (pDCs) are considered as the main source of enhanced IFN type I expression. The objective of this study was to unravel the molecular pathways underlying IFN type I bioactivity in pDCs of patients with pSS. METHODS: Blood samples from 42 healthy controls (HC) and 115 patients with pSS were stratified according to their IFN type I signature...
September 26, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27658362/-aicardi-goutieres-syndrome-due-to-mutation-of-the-ifih1-gene-with-pontine-involvement-a-case-report
#8
A Florido-Rodriguez, J Eiris-Punal, F Barros-Angueira, L Toledo-Bravo de Laguna, A Santana-Artiles, I Sebastian-Garcia, A Santana-Rodriguez, J C Cabrera-Lopez
INTRODUCTION: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature...
October 1, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/27643693/neurologic-phenotypes-associated-with-mutations-in-trex1-rnaseh2a-rnaseh2b-rnaseh2c-samhd1-adar1-and-ifih1-aicardi-gouti%C3%A3-res-syndrome-and-beyond
#9
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27564082/polymorphisms-in-cd84-il12b-and-tnfaip3-are-associated-with-response-to-biologics-in-patients-with-psoriasis
#10
J M P A van den Reek, M J H Coenen, M van de L'Isle Arias, J Zweegers, D Rodijk-Olthuis, J Schalkwijk, S H Vermeulen, I Joosten, P C M van de Kerkhof, M M B Seyger, P L J M Zeeuwen, E M G J de Jong
BACKGROUND: The effectiveness of biologics for psoriasis shows heterogeneity among patients. With pharmacogenetic markers, it might be possible to predict treatment response. OBJECTIVES: We aimed to test the association between genetic markers and the response to biologics in psoriasis (etanercept, adalimumab, ustekinumab) in a prospective cohort. METHODS: We investigated the copy number variation in LCE3B and 3C genes, and eight single nucleotide polymorphisms (SNPs) in HLA-C*06, CD84, IL12b, IL23R, TRAF3IP2, ERAP1, IFIH1 and TNFAIP3...
August 26, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27544780/estradiol-independent-modulation-of-breast-cancer-transcript-profile-by-17beta-hydroxysteroid-dehydrogenase-type-1
#11
Juliette A Aka, Ezequiel-Luis Calvo, Sheng-Xiang Lin
17beta-hydroxysteroid dehydrogenase type 1 (17β-HSD1) is a steroidal enzyme which, in breast cancer cells, mainly synthesizes 17-beta-estradiol (E2), an estrogenic hormone that stimulates breast cancer cell growth. We previously showed that the enzyme increased breast cancer cell proliferation via a dual effect on E2 and 5α-dihydrotestosterone (DHT) levels and impacted gene expression and protein profile of breast cancer cells cultured in E2-contained medium. Here, we used RNA interference technique combined with microarray analyses to investigate the effect of 17β-HSD1 expression on breast cancer cell transcript profile in steroid-deprived condition...
August 18, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27077807/activated-human-mesenchymal-stem-stromal-cells-suppress-metastatic-features-of-mda-mb-231-cells-by-secreting-ifn-%C3%AE
#12
N Yoon, M S Park, T Shigemoto, G Peltier, R H Lee
Our recent study showed that human mesenchymal stem/stromal cells (hMSCs) are activated to express tumor necrosis factor (TNF)-α-related apoptosis-inducing ligand (TRAIL) by exposure to TNF-α and these activated hMSCs effectively induce apoptosis in triple-negative breast cancer MDA-MB-231 (MDA) cells in vitro and in vivo. Here, we further demonstrated that activated hMSCs not only induced apoptosis of MDA cells but also reduced metastatic features in MDA cells. These activated hMSC-exposed MDA cells showed reduced tumorigenicity and suppressed formation of lung metastasis when implanted in the mammary fat pad...
2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27034163/cancer-therapies-activate-rig-i-like-receptor-pathway-through-endogenous-non-coding-rnas
#13
Diana Rose E Ranoa, Akash D Parekh, Sean P Pitroda, Xiaona Huang, Thomas Darga, Anthony C Wong, Lei Huang, Jorge Andrade, Jonathan P Staley, Takashi Satoh, Shizuo Akira, Ralph R Weichselbaum, Nikolai N Khodarev
Emerging evidence indicates that ionizing radiation (IR) and chemotherapy activate Type I interferon (IFN) signaling in tumor and host cells. However, the mechanism of induction is poorly understood. We identified a novel radioprotective role for the DEXH box RNA helicase LGP2 (DHX58) through its suppression of IR-induced cytotoxic IFN-beta [1]. LGP2 inhibits activation of the RIG-I-like receptor (RLR) pathway upon binding of viral RNA to the cytoplasmic sensors RIG-I (DDX58) and MDA5 (IFIH1) and subsequent IFN signaling via the mitochondrial adaptor protein MAVS (IPS1)...
May 3, 2016: Oncotarget
https://www.readbyqxmd.com/read/26969675/reconstruction-of-gene-regulatory-modules-from-rna-silencing-of-ifn-%C3%AE-modulators-experimental-set-up-and-inference-method
#14
Angela Grassi, Barbara Di Camillo, Francesco Ciccarese, Valentina Agnusdei, Paola Zanovello, Alberto Amadori, Lorenzo Finesso, Stefano Indraccolo, Gianna Maria Toffolo
BACKGROUND: Inference of gene regulation from expression data may help to unravel regulatory mechanisms involved in complex diseases or in the action of specific drugs. A challenging task for many researchers working in the field of systems biology is to build up an experiment with a limited budget and produce a dataset suitable to reconstruct putative regulatory modules worth of biological validation. RESULTS: Here, we focus on small-scale gene expression screens and we introduce a novel experimental set-up and a customized method of analysis to make inference on regulatory modules starting from genetic perturbation data, e...
March 12, 2016: BMC Genomics
https://www.readbyqxmd.com/read/26893477/activation-of-the-mda-5-ips-1-viral-sensing-pathway-induces-cancer-cell-death-and-type-i-ifn-dependent-antitumor-immunity
#15
Xiaofei Yu, Hongxia Wang, Xia Li, Chunqing Guo, Fang Yuan, Paul B Fisher, Xiang-Yang Wang
Melanoma differentiation-associated gene 5 (MDA-5, IFIH1), a cytosolic innate pattern recognition receptor, functions as a first line of defense against viral infection by sensing double-stranded RNA. Ectopic expression of MDA-5 has been shown to induce cancer cell death, but the mechanism of action by which MDA-5 exerts these cytotoxic effects is unclear. Here, we demonstrate that ectopic expression of MDA-5 via replication-incompetent adenovirus (Ad.Mda-5) initiates multiple signaling cascades, culminating in cytotoxicity and type I IFN production in mouse and human prostate cancer cells...
April 15, 2016: Cancer Research
https://www.readbyqxmd.com/read/26833990/clinical-and-pathologic-features-of-aicardi-gouti%C3%A3-res-syndrome-due-to-an-ifih1-mutation-a-pediatric-case-report
#16
Florent Marguet, Annie Laquerrière, Alice Goldenberg, Anne-Marie Guerrot, Olivier Quenez, Philippe Flahaut, Catherine Vanhulle, Clémentine Dumant-Forest, Françoise Charbonnier, Myriam Vezain, Soumeya Bekri, Isabelle Tournier, Thierry Frébourg, Gaël Nicolas
We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child-unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi-Goutières syndrome was identified. This child presented with a severe form with neonatal thrombocytopenia and hepatomegaly, the latter having been detected during late gestation...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26646717/human-%C3%AE-defensin-3-corrected-exacerbates-mda5-but-suppresses-tlr3-responses-to-the-viral-molecular-pattern-mimic-polyinosinic-polycytidylic-acid
#17
Fiona Semple, Heather MacPherson, Sheila Webb, Fiona Kilanowski, Laura Lettice, Sarah L McGlasson, Ann P Wheeler, Valerie Chen, Glenn L Millhauser, Lauren Melrose, Donald J Davidson, Julia R Dorin
Human β-defensin 3 (hBD3) is a cationic host defence peptide and is part of the innate immune response. HBD3 is present on a highly copy number variable block of six β-defensin genes, and increased copy number is associated with the autoimmune disease psoriasis. It is not known how this increase influences disease development, but psoriasis is a T cell-mediated disease and activation of the innate immune system is required for the initial trigger that leads to the amplification stage. We investigated the effect of hBD3 on the response of primary macrophages to various TLR agonists...
December 2015: PLoS Genetics
https://www.readbyqxmd.com/read/26626624/genome-wide-association-analysis-of-psoriatic-arthritis-and-cutaneous-psoriasis-reveals-differences-in-their-genetic-architecture
#18
Philip E Stuart, Rajan P Nair, Lam C Tsoi, Trilokraj Tejasvi, Sayantan Das, Hyun Min Kang, Eva Ellinghaus, Vinod Chandran, Kristina Callis-Duffin, Robert Ike, Yanming Li, Xiaoquan Wen, Charlotta Enerbäck, Johann E Gudjonsson, Sulev Kõks, Külli Kingo, Tõnu Esko, Ulrich Mrowietz, Andre Reis, H Erich Wichmann, Christian Gieger, Per Hoffmann, Markus M Nöthen, Juliane Winkelmann, Manfred Kunz, Elvia G Moreta, Philip J Mease, Christopher T Ritchlin, Anne M Bowcock, Gerald G Krueger, Henry W Lim, Stephan Weidinger, Michael Weichenthal, John J Voorhees, Proton Rahman, Peter K Gregersen, Andre Franke, Dafna D Gladman, Gonçalo R Abecasis, James T Elder
Psoriasis vulgaris (PsV) is a common inflammatory and hyperproliferative skin disease. Up to 30% of people with PsV eventually develop psoriatic arthritis (PsA), an inflammatory musculoskeletal condition. To discern differences in genetic risk factors for PsA and cutaneous-only psoriasis (PsC), we carried out a genome-wide association study (GWAS) of 1,430 PsA case subjects and 1,417 unaffected control subjects. Meta-analysis of this study with three other GWASs and two targeted genotyping studies, encompassing a total of 9,293 PsV case subjects, 3,061 PsA case subjects, 3,110 PsC case subjects, and 13,670 unaffected control subjects of European descent, detected 10 regions associated with PsA and 11 with PsC at genome-wide (GW) significance...
December 3, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26445728/pharmacogenomic-study-in-patients-with-multiple-sclerosis-responders-and-nonresponders-to-ifn-%C3%AE
#19
Marta F Bustamante, Carlos Morcillo-Suárez, Sunny Malhotra, Jordi Rio, Laura Leyva, Oscar Fernández, Uwe K Zettl, Joep Killestein, David Brassat, Juan Antonio García-Merino, Antonio J Sánchez, Elena Urcelay, Roberto Alvarez-Lafuente, Lusia M Villar, Jose Carlos Alvarez-Cermeño, Xavier Farré, Jeannette Lechner-Scott, Koen Vandenbroeck, Alfredo Rodríguez-Antigüedad, Jelena S Drulovic, Filippo Martinelli Boneschi, Andrew Chan, Jorge Oksenberg, Arcadi Navarro, Xavier Montalban, Manuel Comabella
OBJECTIVES: We aimed to investigate the association between polymorphisms located in type I interferon (IFN)-induced genes, genes belonging to the toll-like receptor (TLR) pathway, and genes encoding neurotransmitter receptors and the response to IFN-β treatment in patients with multiple sclerosis (MS). METHODS: In a first or screening phase of the study, 384 polymorphisms were genotyped in 830 patients with MS classified into IFN-β responders (n = 416) and nonresponders (n = 414) according to clinical criteria...
October 2015: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/26405073/shared-genetic-basis-for-type-1-diabetes-islet-autoantibodies-and-autoantibodies-associated-with-other-immune-mediated-diseases-in-families-with-type-1-diabetes
#20
Caroline A Brorsson, Flemming Pociot
Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim of this study was to investigate whether susceptibility loci identified in genome-wide association studies (GWAS) of T1D were also associated with autoantibody positivity in individuals with diabetes. Fifty single nucleotide polymorphisms (SNPs) were genotyped in 6,556 multiethnic cases collected by the Type 1 Diabetes Genetics Consortium (T1DGC)...
October 2015: Diabetes Care
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