Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

Journal of Translational Autoimmunity - Tập 1 - Trang 100005 - 2019
Sigrid Aslaksen1,2, Anette B. Wolff1,2, Magnus D. Vigeland3,4, Lars Breivik1,2,5, Ying Sheng4, Bergithe E. Oftedal1,2, Haydee Artaza1,2, Beate Skinningsrud4, Dag E. Undlien3,4, Kaja K. Selmer6,7, Eystein S. Husebye1,2,5, Eirik Bratland1,2
1Department of Clinical Science, University of Bergen, Norway
2KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway
3Institute of Clinical Medicine, University of Oslo, Norway
4Department of Medical Genetics, Oslo University Hospital, Norway
5Department of Medicine, Haukeland University Hospital, Norway
6Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Norway
7National Centre for Epilepsy, Oslo University Hospital, Norway

Tài liệu tham khảo

Bratland, 2011, Cellular immunity and immunopathology in autoimmune Addison's disease, Mol. Cell. Endocrinol., 336, 180, 10.1016/j.mce.2010.12.015 Dawoodji, 2014, High frequency of cytolytic 21-hydroxylase–specific CD8+ T cells in autoimmune Addison's disease patients, J. Immunol., 193, 2118, 10.4049/jimmunol.1400056 Bratland, 2009, T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency, J. Clin. Endocrinol. Metab., 94, 5117, 10.1210/jc.2009-1115 Wolff, 2015, CTLA-4 as a genetic determinant in autoimmune Addison's disease, Genes Immun., 16, 430, 10.1038/gene.2015.27 Erichsen, 2009, Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian Registry, J. Clin. Endocrinol. Metab., 94, 4882, 10.1210/jc.2009-1368 Eriksson, 2018, Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden, Sci. Rep., 8, 8395, 10.1038/s41598-018-26842-2 Husebye, 2018, Autoimmune polyendocrine syndromes, N. Engl. J. Med., 378, 1132, 10.1056/NEJMra1713301 Mitchell, 2012, Autoimmune Addison disease: pathophysiology and genetic complexity, Nat. Rev. Endocrinol., 8, 306, 10.1038/nrendo.2011.245 Skov, 2017, Heritability of Addison's disease and prevalence of associated autoimmunity in a cohort of 112,100 Swedish twins, Endocrine, 58, 521, 10.1007/s12020-017-1441-z Cirulli, 2010, Uncovering the roles of rare variants in common disease through whole-genome sequencing, Nat. Rev. Genet., 11, 415, 10.1038/nrg2779 Assmann, 2014, Polymorphisms in the TLR3 gene are associated with risk for type 1 diabetes mellitus, Eur. J. Endocrinol., 170, 519, 10.1530/EJE-13-0963 Christensen, 2006, Toll-like receptor 7 and TLR9 dictate autoantibody specificity and have opposing inflammatory and regulatory roles in a murine model of lupus, Immunity, 25, 417, 10.1016/j.immuni.2006.07.013 Eizirik, 2009, The role of inflammation in insulitis and β-cell loss in type 1 diabetes, Nat. Rev. Endocrinol., 5, 219, 10.1038/nrendo.2009.21 Pisitkun, 2006, Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication, Science, 312, 1669, 10.1126/science.1124978 Edvardsen, 2015, Peripheral blood cells from patients with autoimmune Addison's disease poorly respond to Interferons in vitro, despite elevated serum levels of interferon-inducible Chemokines, J. Interferon Cytokine Res., 35, 759, 10.1089/jir.2014.0171 Bancos, 2017, Primary adrenal insufficiency is associated with impaired natural killer cell function: a potential link to increased mortality, Eur. J. Endocrinol., 176, 471, 10.1530/EJE-16-0969 Smans, 2013, Increased use of antimicrobial agents and hospital admission for infections in patients with primary adrenal insufficiency: a cohort study, Eur. J. Endocrinol., 168, 609, 10.1530/EJE-12-0879 Sun, 2006, Structural and functional analyses of the human toll-like receptor 3 ROLE OF GLYCOSYLATION, J. Biol. Chem., 281, 11144, 10.1074/jbc.M510442200 Iwasaki, 2015, Control of adaptive immunity by the innate immune system, Nat. Immunol., 16, 343, 10.1038/ni.3123 Bratland, 2013, Induction of CXCL10 chemokine in adrenocortical cells by stimulation through toll-like receptor 3, Mol. Cell. Endocrinol., 365, 75, 10.1016/j.mce.2012.09.004 Hosseini, 2015, Toll-like receptors in the pathogenesis of autoimmune diseases, Adv. Pharmaceut. Bull., 5, 605, 10.15171/apb.2015.082 Nahum, 2012, The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity, Autoimmun. Rev., 11, 341, 10.1016/j.autrev.2011.10.007 Studzińska, 2017, Association of TLR3 L412F polymorphism with cytomegalovirus infection in children, PLoS One, 12, e0169420, 10.1371/journal.pone.0169420 Kindberg, 2011, A functional Toll-like receptor 3 gene (TLR3) may be a risk factor for tick-borne encephalitis virus (TBEV) infection, J. Infect. Dis., 203, 523, 10.1093/infdis/jiq082 Al-Anazi, 2017, Association of toll-like receptor 3 single-nucleotide polymorphisms and hepatitis C virus infection, J. Immunol. Res., 2017 He, 2017, Association of Toll-like receptor 3 gene polymorphism with the severity of enterovirus 71 infection in Chinese children, Arch. Virol., 162, 1717, 10.1007/s00705-017-3265-9 Zhang, 2016, Polymorphisms in Toll-like receptor 3 are associated with asthma-related phenotypes in the Chinese Han patients, Int. J. Immunogenet., 43, 383, 10.1111/iji.12290 Alexopoulou, 2001, Recognition of double-stranded RNA and activation of NF-κB by Toll-like receptor 3, Nature, 413, 732, 10.1038/35099560 Blasius, 2010, Intracellular toll-like receptors, Immunity, 32, 305, 10.1016/j.immuni.2010.03.012 Bell, 2006, The dsRNA binding site of human Toll-like receptor 3, Proc. Natl. Acad. Sci., 103, 8792, 10.1073/pnas.0603245103 Lim, 2014, TLR3 deficiency in herpes simplex encephalitis. High allelic heterogeneity and recurrence risk, Neurology, 83, 1888, 10.1212/WNL.0000000000000999 Bornstein, 2016, Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline, J. Clin. Endocrinol. Metab., 101, 364, 10.1210/jc.2015-1710 Myklebost, 2015, Norwegian Cancer Genomics Consortium: a platform for research on personalized cancer medicine in a public health system, Drug Discov. Today, 20, 1419, 10.1016/j.drudis.2015.10.003 Li, 2010, Fast and accurate long-read alignment with Burrows–Wheeler transform, Bioinformatics, 26, 589, 10.1093/bioinformatics/btp698 McKenna, 2010, The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res., 20, 1297, 10.1101/gr.107524.110 DePristo, 2011, A framework for variation discovery and genotyping using next-generation DNA sequencing data, Nat. Genet., 43, 491, 10.1038/ng.806 Wang, 2010, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Res., 38, 10.1093/nar/gkq603 Vigeland, 2016, FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector, Bioinformatics, 32, 1592, 10.1093/bioinformatics/btw046 Chojnacki, 2017, Programmatic access to bioinformatics tools from EMBL-EBI update: 2017, Nucleic Acids Res., 45, W550, 10.1093/nar/gkx273 Kumar, 2009, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat. Protoc., 4, 1073, 10.1038/nprot.2009.86 Adzhubei, 2013, Predicting functional effect of human missense mutations using PolyPhen-2, Curr. Protoc. Human Genet., 76, 7.20.1, 10.1002/0471142905.hg0720s76 Schwarz, 2014, MutationTaster2: mutation prediction for the deep-sequencing age, Nat. Methods, 11, 361, 10.1038/nmeth.2890 Choi, 2012, Predicting the functional effect of amino acid substitutions and indels, PLoS One, 7, e46688, 10.1371/journal.pone.0046688 Kircher, 2014, A general framework for estimating the relative pathogenicity of human genetic variants, Nat. Genet., 46, 310, 10.1038/ng.2892 DeLano, 2002 Bell, 2005, The molecular structure of the Toll-like receptor 3 ligand-binding domain, Proc. Natl. Acad. Sci., 102, 10976, 10.1073/pnas.0505077102 Liu, 2008, Structural basis of toll-like receptor 3 signaling with double-stranded RNA, Science, 320, 379, 10.1126/science.1155406 Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057 Consortium, 2015, The UK10K project identifies rare variants in health and disease, Nature, 526, 82, 10.1038/nature14962 Andersen, 2017, Frequently used bioinformatics tools overestimate the damaging effect of allelic variants, Genes Immun., 1 Fukuda, 2008, Modulation of double-stranded RNA recognition by the N-terminal histidine-rich region of the human toll-like receptor 3, J. Biol. Chem., 283, 22787, 10.1074/jbc.M802284200 Ranjith-Kumar, 2007, Biochemical and functional analyses of the human Toll-like receptor 3 ectodomain, J. Biol. Chem., 282, 7668, 10.1074/jbc.M610946200 Wang, 2010, Dimerization of Toll-like receptor 3 (TLR3) is required for ligand binding, J. Biol. Chem., 285, 36836, 10.1074/jbc.M110.167973 Perrot, 2010, TLR3 and Rig-like receptor on myeloid dendritic cells and Rig-like receptor on human NK cells are both mandatory for production of IFN-γ in response to double-stranded RNA, J. Immunol., 1000532 Yamagata, 2018, Structural insights into modulation and selectivity of transsynaptic neurexin–LRRTM interaction, Nat. Commun., 9, 3964, 10.1038/s41467-018-06333-8 Botos, 2011, The structural biology of Toll-like receptors, Structure, 19, 447, 10.1016/j.str.2011.02.004 Mielcarska, 2018, Functional failure of TLR3 and its signaling components contribute to herpes simplex encephalitis, J. Neuroimmunol., 316, 65, 10.1016/j.jneuroim.2017.12.011 Andersen, 2015, Functional IRF3 deficiency in a patient with herpes simplex encephalitis, J. Exp. Med., 212, 1371, 10.1084/jem.20142274 Mørk, 2015, Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis, Genes Immun., 16, 552, 10.1038/gene.2015.46 Nagi, 1997, An inverse correlation between loop length and stability in a four-helix-bundle protein, Fold. Des., 2, 67, 10.1016/S1359-0278(97)00007-2 Nahum, 2011, The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity, J. Allergy Clin. Immunol., 127, 528, 10.1016/j.jaci.2010.09.031 Fichna, 2016, Polymorphisms of the toll-like receptor-3 gene in autoimmune adrenal failure and type 1 diabetes in polish patients, Arch. Immunol. Ther. Exp., 64, 83, 10.1007/s00005-015-0360-z Guo, 2011, Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity, J. Exp. Med., 208, 2083, 10.1084/jem.20101568 Ranjith-Kumar, 2007, Effects of single nucleotide polymorphisms on Toll-like receptor 3 activity and expression in cultured cells, J. Biol. Chem., 282, 17696, 10.1074/jbc.M700209200 Gorbea, 2010, A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy, J. Biol. Chem., 285, 23208, 10.1074/jbc.M109.047464 Sironi, 2017, TLR3 mutations in adult patients with herpes simplex virus and varicella-zoster virus encephalitis, J. Infect. Dis., 215, 1430, 10.1093/infdis/jix166 Chow, 2018, RIG-I and other RNA sensors in antiviral immunity, Annu. Rev. Immunol., 36, 667, 10.1146/annurev-immunol-042617-053309 Trejo-de la O, 2014, Relevance of single-nucleotide polymorphisms in human TLR genes to infectious and inflammatory diseases and cancer, Genes Immun., 15, 10.1038/gene.2014.10 Moutsianas, 2015, The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease, PLoS Genet., 11, e1005165, 10.1371/journal.pgen.1005165 Hellesen, 2019, The potential role for infections in the pathogenesis of autoimmune Addison's disease, Clin. Exp. Immunol., 195, 52, 10.1111/cei.13207 Trevisan, 2009, Human cytomegalovirus productively infects adrenocortical cells and induces an early cortisol response, J. Cell. Physiol., 221, 629, 10.1002/jcp.21896 Kelestimur, 2004, The endocrinology of adrenal tuberculosis: the effects of tuberculosis on the hypothalamo-pituitary-adrenal axis and adrenocortical function, J. Endocrinol. Investig., 27, 380, 10.1007/BF03351067 McLeod, 2011, Histoplasmosis in Australia: report of 16 cases and literature review, Medicine, 90, 61, 10.1097/MD.0b013e318206e499 Hill, 1986, Infection of the adrenal gland as a route to the central nervous system after viraemia with herpes simplex virus in the mouse, J. Gen. Virol., 67, 309, 10.1099/0022-1317-67-2-309 Nachtigal, 1984, Early and late pathologic changes in the adrenal glands of mice after infection with herpes simplex virus type 1, Am. J. Pathol., 115, 175