Frequency of Single Nucleotide Polymorphisms of Some Immune
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Variation in FCN1 Affects Biosynthesis of Ficolin-1 and Is Associated With
Genes and Immunity (2012) 13, 515–522 & 2012 Macmillan Publishers Limited All rights reserved 1466-4879/12 www.nature.com/gene ORIGINAL ARTICLE Variation in FCN1 affects biosynthesis of ficolin-1 and is associated with outcome of systemic inflammation L Munthe-Fog1, T Hummelshoj1, C Honore´ 1, ME Moller1, MO Skjoedt1, I Palsgaard1, N Borregaard2, HO Madsen1 and P Garred1 Ficolin-1 is a recognition molecule of the lectin complement pathway. The ficolin-1 gene FCN1 is polymorphic, but the functional and clinical consequences are unknown.The concentration of ficolin-1 in plasma and FCN1 polymorphisms in positions À 1981 (rs2989727), À 791 (rs28909068), À 542 (rs10120023), À 271 (rs28909976), À 144 (rs10117466) and þ 7918 (rs1071583) were determined in 100 healthy individuals. FCN1 expression by isolated monocytes and granulocytes and ficolin-1 levels in monocyte culture supernatants were assessed in 21 FCN1-genotyped individuals. FCN1 polymorphisms were determined in a cohort of 251 patients with systemic inflammation. High ficolin-1 plasma levels were significantly associated with the minor alleles in position À 542 and À 144. These alleles were also significantly associated with high FCN1 mRNA expression. The level of ficolin-1 in culture supernatants was significantly higher in individuals homozygous for the minor alleles at positions À 542 and À 144. Homozygosity for these alleles was significantly associated with fatal outcome in patients with systemic inflammation. None of the other investigated polymorphisms were associated with FCN1 and ficolin-1 expression, concentration or disease outcome. Functional polymorphic sites in the promoter region of FCN1 regulate both the expression and synthesis of ficolin-1 and are associated with outcome in severe inflammation. -
Single Nucleotide Polymorphism (SNP)
Aquaculture Genome Technologies Zhanjiang (John) Liu Copyright © 2007 by Blackwell Publishing Chapter 6 Single Nucleotide Polymorphism (SNP) Zhanjiang Liu Single nucleotide polymorphism (SNP) describes polymorphisms caused by point mutations that give rise to different alleles containing alternative bases at a given nucleotide position within a locus. Such sequence differences due to base substitu- tions have been well characterized since the beginning of DNA sequencing in 1977, but the ability to genotype SNPs rapidly in large numbers of samples was not possible until several major technological advances in the late 1990s. With the development of the TaqMan technology, gene chip technology, pyrosequencing, and MALDI-TOF, which is matrix-assisted laser desorption ionization-time of flight mass spectrometry (Haff et al. 1997, Tost et al. 2005), SNPs are again becoming a focal point in molecular marker development because they are the most abundant polymorphism in any organ- ism (as shown in Table 6.1), adaptable to automation, and reveal hidden polymor- phism not detected with other markers and methods. SNP markers are regarded by many as the projected markers of choice for the future. In this chapter, I will summa- rize methods for SNP discovery, review the traditional approaches for SNP genotyp- ing and their principles, present several major platforms for SNP genotyping using recently developed technologies, and discuss the pros and cons of SNP markers for aquaculture genome research. What Are SNP Markers and Why Are They the Future Markers of Choice? SNP can be defined as base variation at any site of the genome among individuals, or an alternative base at a given DNA site (Figure 6.1). -
13-Van Lieshout TOORTHJ
Send Orders for Reprints to [email protected] The Open Orthopaedics Journal, 2015, 9, (Suppl 1: M13) 367-371 367 Open Access Multiple Infectious Complications in a Severely Injured Patient with Single Nucleotide Polymorphisms in Important Innate Immune Response Genes Maarten W.G.A. Bronkhorst1, Peter Patka2 and Esther M.M. Van Lieshout*,1 1Trauma Research Unit Department of Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands 2Department of Accident & Emergency, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands Abstract: Trauma is a major public health problem worldwide. Infectious complications, sepsis, and multiple organ dysfunction syndrome (MODS) remain important causes for morbidity and mortality in patients who survive the initial trauma. There is increasing evidence for the role of genetic variation in the innate immune system on infectious complications in severe trauma patients. We describe a trauma patient with multiple infectious complications caused by multiple micro-organisms leading to prolonged hospital stay with numerous treatments. This patient had multiple single nucleotide polymorphisms (SNPs) in the MBL2, MASP2, FCN2 and TLR2 genes, most likely contributing to increased susceptibility and severity of infectious disease. Keywords: Complications, genetic variation, infection, multiple organ dysfunction syndrome, single nucleotide polymorphism, systemic inflammatory response syndrome, trauma. INTRODUCTION differences between humans These differences are known as ‘polymorphisms’. The coding regions of DNA contain the Trauma is a major public health problem worldwide, approximately 20,000 human protein-coding genes. The ranking as the fourth leading cause of death. In 2010, there coding regions take up less than 2% of all DNA. More than were 5.1 million deaths from injuries and the total number of 98% of the human genome is composed of non-coding DNA deaths from injuries was greater than the number of deaths of which the function is partly unknown. -
Genetic, Epidemiological and Biological Analysis of Interleukin-10
Genes and Immunity (2009) 10, 174–180 & 2009 Macmillan Publishers Limited All rights reserved 1466-4879/09 $32.00 www.nature.com/gene ORIGINAL ARTICLE Genetic, epidemiological and biological analysis of interleukin-10 promoter single-nucleotide polymorphisms suggests a definitive role for À819C/T in leprosy susceptibility AC Pereira1,5, VN Brito-de-Souza1,5, CC Cardoso2, IMF Dias-Baptista1, FPC Parelli1,3, J Venturini1,3, FR Villani-Moreno1, AG Pacheco4 and MO Moraes2 1Instituto Lauro de Souza Lima, Bauru, Sa˜o Paulo, Brazil; 2Laborato´rio de Hansenı´ase, Departamento de Micobacterioses, Instituto Oswaldo Cruz, Rio de Janeiro, Brazil; 3Tropical Diseases Area, Botucatu Medical School, Sao Paulo State University, UNESP, Botucatu, Sa˜o Paulo, Brazil and 4Departamento de Epidemiologia e Me´todos Quantitativos em Sau´de (DEMQS), Escola Nacional de Sau´de Pu´blica (ENSP)/PROCC, FIOCRUZ, Rio de Janeiro, Brazil Leprosy is a complex infectious disease influenced by genetic and environmental factors. The genetic contributing factors are considered heterogeneous and several genes have been consistently associated with susceptibility like PARK2, tumor necrosis factor (TNF), lymphotoxin-a (LTA) and vitamin-D receptor (VDR). Here, we combined a case–control study (374 patients and 380 controls), with meta-analysis (5 studies; 2702 individuals) and biological study to test the epidemiological and physiological relevance of the interleukin-10 (IL-10) genetic markers in leprosy. We observed that the À819T allele is associated with leprosy susceptibility either in the case–control or in the meta-analysis studies. Haplotypes combining promoter single-nucleotide polymorphisms also implicated a haplotype carrying the À819T allele in leprosy susceptibility (odds ratio (OR) ¼ 1.40; P ¼ 0.01). -
What Is the Extent of the Role Played by Genetic Factors in Periodontitis?
Perio Insight 4 Summer 2017 www.efp.org/perioinsight DEBATE EXPERT VIEW FOCUS RESEARCH Editor: Joanna Kamma What is the extent of the role played by genetic factors in periodontitis? Discover latest JCP research hile genetic factors are known to play a role in In a comprehensive overview of current knowledge, The Journal of Clinical Periodontology Wperiodontitis, a lot of research still needs to be they outline what is known today and discuss the (JCP) is the official scientific publication done to understand the mechanisms that are involved. most promising lines for future inquiry. of the European Federation of Indeed, the limited extent to which the genetic They note that the phenotypes of aggressive Periodontology (EFP). It publishes factors associated with periodontitis have been periodontitis (AgP) and chronic periodontitis (CP) may research relating to periodontal and peri- identified is “somewhat disappointing”, say Bruno not be as distinct as previously assumed because they implant diseases and their treatment. G. Loos and Deon P.M. Chin, from the Academic share genetic and other risk factors. The six JCP articles summarised in this Centre for Dentistry in Amsterdam. More on pages 2-5 edition of Perio Insight cover: (1) how periodontitis changes renal structures by oxidative stress and lipid peroxidation; (2) gingivitis and lifestyle influences on high-sensitivity C-reactive protein and interleukin 6 in adolescents; (3) the long-term efficacy of periodontal Researchers call regenerative therapies; (4) tooth loss in generalised aggressive periodontitis; (5) the association between diabetes for global action mellitus/hyperglycaemia and peri- implant diseases; (6) the efficacy of on periodontal collagen matrix seal and collagen sponge on ridge preservation in disease combination with bone allograft. -
Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases
Journal of Clinical Medicine Review Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases Anna Wajda 1 , Larysa Sivitskaya 2,* and Agnieszka Paradowska-Gorycka 1 1 Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland; [email protected] (A.W.); [email protected] (A.P.-G.) 2 Institute of Genetics and Cytology, National Academy of Sciences of Belarus, 220072 Minsk, Belarus * Correspondence: [email protected] Abstract: NGS technologies have transformed clinical diagnostics and broadly used from neonatal emergencies to adult conditions where the diagnosis cannot be made based on clinical symptoms. Autoimmune diseases reveal complicate molecular background and traditional methods could not fully capture them. Certainly, NGS technologies meet the needs of modern exploratory research, diagnostic and pharmacotherapy. Therefore, the main purpose of this review was to briefly present the application of NGS technology used in recent years in the understanding of autoimmune diseases paying particular attention to autoimmune connective tissue diseases. The main issues are presented in four parts: (a) panels, whole-genome and -exome sequencing (WGS and WES) in diagnostic, (b) Human leukocyte antigens (HLA) as a diagnostic tool, (c) RNAseq, (d) microRNA and (f) microbiome. Although all these areas of research are extensive, it seems that epigenetic impact on the development of systemic autoimmune diseases will set trends for future studies on this area. Citation: Wajda, A.; Sivitskaya, L.; Keywords: next-generation sequencing; autoimmune diseases; autoimmune connective tissue dis- Paradowska-Gorycka, A. Application eases; HLA; microRNA; microbiome of NGS Technology in Understanding the Pathology of Autoimmune Diseases. J. Clin. -
IMGT-Choreography for Immunogenetics and Immunoinformatics
In Silico Biology 5 (2005) 45–60 45 IOS Press IMGT-Choreography for Immunogenetics and Immunoinformatics Marie-Paule Lefranc∗, Oliver Clement,´ Quentin Kaas, Elodie Duprat, Patrick Chastellan, Isabelle Coelho, Kora Combres, Chantal Ginestoux, Veronique´ Giudicelli, Denys Chaume and Gerard´ Lefranc IMGT, the international ImMunoGeneTics information system , Universite´ Montpellier II, Laboratoire d’ImmunoGen´ etique´ Moleculaire´ LIGM, UPR CNRS 1142, Institut de Gen´ etique´ Humaine IGH, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France Tel.: +33 4 99 61 99 65; Fax: +33 4 99 61 99 01 Edited by H. Michael; received 11 September 2004; revised and accepted 14 December 2004; published 24 December 2004 ABSTRACT: IMGT, the international ImMunoGeneTics information system (http://imgt.cines.fr), was created in 1989 at Montpellier, France. IMGT is a high quality integrated knowledge resource specialized in immunoglobulins (IG), T cell receptors (TR), major histocompatibility complex (MHC) of human and other vertebrates, and related proteins of the immune system (RPI) which belong to the immunoglobulin superfamily (IgSF) and MHC superfamily (MhcSF). IMGT provides a common access to standardized data from genome, proteome, genetics and three-dimensional structures. The accuracy and the consistency of IMGT data are based on IMGT-ONTOLOGY, a semantic specification of terms to be used in immunogenetics and immunoinformatics. IMGT-ONTOLOGY has been formalized using XML Schema (IMGT-ML) for interoperability with other information systems. We are developing Web services to automatically query IMGT databases and tools. This is the first step towards IMGT-Choreography which will trigger and coordinate dynamic interactions between IMGT Web services to process complex significant biological and clinical requests. -
Multiple Sclerosis: Shall We Target CD33?
G C A T T A C G G C A T genes Article Multiple Sclerosis: Shall We Target CD33? Vasileios Siokas 1, Zisis Tsouris 1, Athina-Maria Aloizou 1 , Christos Bakirtzis 2, Ioannis Liampas 1 , Georgios Koutsis 3 , Maria Anagnostouli 4 , Dimitrios P. Bogdanos 5, Nikolaos Grigoriadis 2, Georgios M. Hadjigeorgiou 1,6 and Efthimios Dardiotis 1,* 1 Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece; [email protected] (V.S.); [email protected] (Z.T.); [email protected] (A.-M.A.); [email protected] (I.L.); [email protected] (G.M.H.) 2 Multiple Sclerosis Center, B’ Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, GR54636 Thessaloniki, Greece; [email protected] (C.B.); [email protected] (N.G.) 3 Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Vassilissis Sofias 72-74 Ave, 11528 Athens, Greece; [email protected] 4 Multiple Sclerosis and Demyelinating Diseases Unit and Immunogenetics Laboratory, 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, 115 28 Athens, Greece; [email protected] 5 Department of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece; [email protected] 6 Department of Neurology, Medical School, University of Cyprus, 1678 Nicosia, Cyprus * Correspondence: [email protected]; Tel.: +30-241-350-1137 Received: 23 September 2020; Accepted: 5 November 2020; Published: 12 November 2020 Abstract: Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). -
Human Lectins, Their Carbohydrate Affinities and Where to Find Them
biomolecules Review Human Lectins, Their Carbohydrate Affinities and Where to Review HumanFind Them Lectins, Their Carbohydrate Affinities and Where to FindCláudia ThemD. Raposo 1,*, André B. Canelas 2 and M. Teresa Barros 1 1, 2 1 Cláudia D. Raposo * , Andr1 é LAQVB. Canelas‐Requimte,and Department M. Teresa of Chemistry, Barros NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2829‐516 Caparica, Portugal; [email protected] 12 GlanbiaLAQV-Requimte,‐AgriChemWhey, Department Lisheen of Chemistry, Mine, Killoran, NOVA Moyne, School E41 of ScienceR622 Co. and Tipperary, Technology, Ireland; canelas‐ [email protected] NOVA de Lisboa, 2829-516 Caparica, Portugal; [email protected] 2* Correspondence:Glanbia-AgriChemWhey, [email protected]; Lisheen Mine, Tel.: Killoran, +351‐212948550 Moyne, E41 R622 Tipperary, Ireland; [email protected] * Correspondence: [email protected]; Tel.: +351-212948550 Abstract: Lectins are a class of proteins responsible for several biological roles such as cell‐cell in‐ Abstract:teractions,Lectins signaling are pathways, a class of and proteins several responsible innate immune for several responses biological against roles pathogens. such as Since cell-cell lec‐ interactions,tins are able signalingto bind to pathways, carbohydrates, and several they can innate be a immuneviable target responses for targeted against drug pathogens. delivery Since sys‐ lectinstems. In are fact, able several to bind lectins to carbohydrates, were approved they by canFood be and a viable Drug targetAdministration for targeted for drugthat purpose. delivery systems.Information In fact, about several specific lectins carbohydrate were approved recognition by Food by andlectin Drug receptors Administration was gathered for that herein, purpose. plus Informationthe specific organs about specific where those carbohydrate lectins can recognition be found by within lectin the receptors human was body. -
Molecular and Epigenetic Features of Melanomas and Tumor Immune
Seremet et al. J Transl Med (2016) 14:232 DOI 10.1186/s12967-016-0990-x Journal of Translational Medicine RESEARCH Open Access Molecular and epigenetic features of melanomas and tumor immune microenvironment linked to durable remission to ipilimumab‑based immunotherapy in metastatic patients Teofila Seremet1,3*† , Alexander Koch2†, Yanina Jansen1, Max Schreuer1, Sofie Wilgenhof1, Véronique Del Marmol3, Danielle Liènard3, Kris Thielemans4, Kelly Schats5, Mark Kockx5, Wim Van Criekinge2, Pierre G. Coulie6, Tim De Meyer2, Nicolas van Baren6,7 and Bart Neyns1 Abstract Background: Ipilimumab (Ipi) improves the survival of advanced melanoma patients with an incremental long-term benefit in 10–15 % of patients. A tumor signature that correlates with this survival benefit could help optimizing indi- vidualized treatment strategies. Methods: Freshly frozen melanoma metastases were collected from patients treated with either Ipi alone (n: 7) or Ipi combined with a dendritic cell vaccine (TriMixDC-MEL) (n: 11). Samples were profiled by immunohistochemistry (IHC), whole transcriptome (RNA-seq) and methyl-DNA sequencing (MBD-seq). Results: Patients were divided in two groups according to clinical evolution: durable benefit (DB; 5 patients) and no clinical benefit (NB; 13 patients). 20 metastases were profiled by IHC and 12 were profiled by RNA- and MBD-seq. 325 genes were identified as differentially expressed between DB and NB. Many of these genes reflected a humoral and cellular immune response. MBD-seq revealed differences between DB and NB patients in the methylation of genes linked to nervous system development and neuron differentiation. DB tumors were more infiltrated by CD8+ and PD-L1+ cells than NB tumors. -
NFKBIL1 Antibody (Center) Blocking Peptide Synthetic Peptide Catalog # Bp10682c
10320 Camino Santa Fe, Suite G San Diego, CA 92121 Tel: 858.875.1900 Fax: 858.622.0609 NFKBIL1 Antibody (Center) Blocking peptide Synthetic peptide Catalog # BP10682c Specification NFKBIL1 Antibody (Center) Blocking NFKBIL1 Antibody (Center) Blocking peptide - peptide - Background Product Information This gene encodes a divergent member of the Primary Accession Q9UBC1 I-kappa-Bfamily of proteins. Its function has not been determined. The genelies within the major histocompatibility complex (MHC) class NFKBIL1 Antibody (Center) Blocking peptide - Additional Information Iregion on chromosome 6. Multiple transcript variants encodingdifferent isoforms have been found for this gene. [provided byRefSeq]. Gene ID 4795 NFKBIL1 Antibody (Center) Blocking Other Names peptide - References NF-kappa-B inhibitor-like protein 1, Inhibitor of kappa B-like protein, I-kappa-B-like Clancy, R.M., et al. Arthritis Rheum. protein, IkappaBL, Nuclear factor of kappa 62(11):3415-3424(2010)Bailey, S.D., et al. light polypeptide gene enhancer in B-cells Diabetes Care inhibitor-like 1, NFKBIL1, IKBL 33(10):2250-2253(2010)Ucisik-Akkaya, E., et Format al. Mol. Hum. Reprod. Peptides are lyophilized in a solid powder 16(10):770-777(2010)Rose, J.E., et al. Mol. format. Peptides can be reconstituted in Med. 16 (7-8), 247-253 (2010) :Owecki, M.K., solution using the appropriate buffer as et al. Pol. Merkur. Lekarski needed. 28(167):366-370(2010) Storage Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. Precautions This product is for research use only. Not for use in diagnostic or therapeutic procedures. -
NFKBIL1 Antibody Cat
NFKBIL1 Antibody Cat. No.: 56-654 NFKBIL1 Antibody Confocal immunofluorescent analysis of NFKBIL1 NFKBIL1 Antibody immunohistochemistry analysis in Antibody with MDA-MB435 cell followed by Alexa Fluor formalin fixed and paraffin embedded human brain tissue 488-conjugated goat anti-rabbit lgG (green).Actin filaments followed by peroxidase conjugation of the secondary have been labeled with Alexa Fluor 555 phalloidin antibody and DAB staining. (red).DAPI was used to stain the cell nuclear (blue). Specifications HOST SPECIES: Rabbit SPECIES REACTIVITY: Human HOMOLOGY: Predicted species reactivity based on immunogen sequence: Mouse, Pig This NFKBIL1 antibody is generated from rabbits immunized with a KLH conjugated IMMUNOGEN: synthetic peptide between 327-356 amino acids from the C-terminal region of human NFKBIL1. TESTED APPLICATIONS: IF, IHC-P, WB September 24, 2021 1 https://www.prosci-inc.com/nfkbil1-antibody-56-654.html For WB starting dilution is: 1:1000 APPLICATIONS: For IHC-P starting dilution is: 1:10~50 For IF starting dilution is: 1:10~50 PREDICTED MOLECULAR 43 kDa WEIGHT: Properties This antibody is purified through a protein A column, followed by peptide affinity PURIFICATION: purification. CLONALITY: Polyclonal ISOTYPE: Rabbit Ig CONJUGATE: Unconjugated PHYSICAL STATE: Liquid BUFFER: Supplied in PBS with 0.09% (W/V) sodium azide. CONCENTRATION: batch dependent Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies STORAGE CONDITIONS: care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures. Additional Info OFFICIAL SYMBOL: NFKBIL1 NF-kappa-B inhibitor-like protein 1, Inhibitor of kappa B-like protein, I-kappa-B-like ALTERNATE NAMES: protein, IkappaBL, Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, NFKBIL1, IKBL ACCESSION NO.: Q9UBC1 PROTEIN GI NO.: 44888077 GENE ID: 4795 USER NOTE: Optimal dilutions for each application to be determined by the researcher.