Gene variants and treatment outcomes in antineutrophil cytoplasmic antibody-associated vasculitis

被引：3
作者：
Hessels, Arno C. [1 ]
Sanders, Jan Stephan F. [1 ]
Rutgers, Abraham [2 ]
Stegeman, Coen A. [1 ]
机构：
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Internal Med, Div Nephrol, Groningen, Netherlands
[2] Univ Groningen, Univ Med Ctr Groningen, Dept Rheumatol & Clin Immunol, Groningen, Netherlands
来源：
PHARMACOGENOMICS JOURNAL | 2020年 / 20卷 / 06期
关键词：
SYSTEMIC-LUPUS-ERYTHEMATOSUS; GLUCOCORTICOID-RECEPTOR GENE; 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-1; RHEUMATOID-ARTHRITIS; WEGENERS-GRANULOMATOSIS; CYCLOPHOSPHAMIDE TREATMENT; PULSE CYCLOPHOSPHAMIDE; STAPHYLOCOCCUS-AUREUS; PROMOTER POLYMORPHISM; AUTOIMMUNE-DISEASES;
D O I：
10.1038/s41397-020-0176-z
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The introduction of immunosuppressive therapy for ANCA-associated vasculitis (AAV) has greatly improved outcomes, though patients now accumulate damage from vasculitis activity and adverse effects of treatment. Prediction of treatment outcomes using gene variants might help reduce this damage by allowing for personalized treatment. Several studies have studied genetic polymorphisms in relation to treatment outcomes of AAV. This review gives an overview of these studies, discussing both gene polymorphisms associated with inflammatory pathways (potentially influencing disease outcomes such as activity, severity, and relapse risk) and pharmacogenetics (potentially influencing drug metabolism and/or drug response). Subsequently, potential benefits of testing genetic variants for AAV and the steps needed for its implementation in clinical practice are discussed. The conclusion of this review is that measurement of most polymorphisms is currently not indicated in clinical practice.
引用
收藏
页码：749 / 759
页数：11
相关论文
共 80 条
[1]   Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody-associated vasculitis [J].
Alberici, Federico ;
Smith, Rona M. ;
Fonseca, Mariana ;
Willcocks, Lisa C. ;
Jones, Rachel B. ;
Holle, Julia U. ;
Wieczorek, Stefan ;
Neumann, Thomas ;
Martorana, Davide ;
Gregorini, Gina ;
Sinico, Renato A. ;
Bruchfeld, Annette ;
Gunnarsson, Iva ;
Ohlsson, Sophie ;
Baslund, Bo ;
Tesar, Vladimir ;
Hruskova, Zdenka ;
Cid, Maria C. ;
Vaglio, Augusto ;
Lyons, Paul A. ;
Smith, Kenneth G. C. ;
Jayne, David R. W. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (05) :1684-+
[2]   TREATMENT OF WEGENERS GRANULOMATOSIS WITH IMMUNOSUPPRESSIVE AGENTS - DESCRIPTION OF RENAL ULTRASTRUCTURE [J].
ALDO, MA ;
BENSON, MD ;
COMERFORD, FR ;
COHEN, AS .
ARCHIVES OF INTERNAL MEDICINE, 1970, 126 (02) :298-+
[3]  
Asadov Chingiz, 2017, Cardiovascular & Hematological Agents in Medicinal Chemistry, V15, P23, DOI 10.2174/1871525715666170529091921
[4]   B-lymphocyte activating factor levels are increased in patients with Wegener's granulomatosis and inversely correlated with ANCA titer [J].
Bader, Lucius ;
Koldingsnes, Wenche ;
Nossent, Johannes .
CLINICAL RHEUMATOLOGY, 2010, 29 (09) :1031-1035
[5]   The Pharmacogenomic Association of Fcγ Receptors and Cytochrome P450 Enzymes With Response to Rituximab or Cyclophosphamide Treatment in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis [J].
Cartin-Ceba, Rodrigo ;
Indrakanti, Divya ;
Specks, Ulrich ;
Stone, John H. ;
Hoffman, Gary S. ;
Kallenberg, Cees G. M. ;
Langford, Carol A. ;
Merkel, Peter A. ;
Spiera, Robert F. ;
Monach, Paul A. ;
St Clair, E. William ;
Seo, Philip ;
Tchao, Nadia K. ;
Ytterberg, Steven R. ;
Brunetta, Paul G. ;
Song, Huijuan ;
Birmingham, Dan ;
Rovin, Brad H. ;
Grp, RAVE-Immune Tolerance Network Res .
ARTHRITIS & RHEUMATOLOGY, 2017, 69 (01) :169-175
[6]   Identification of the polymorphically expressed CYP2C19 and the wild-type CYP2C9-ILE359 allele as low-K-m catalysts of cyclophosphamide and ifosfamide activation [J].
Chang, TKH ;
Yu, L ;
Goldstein, JA ;
Waxman, DJ .
PHARMACOGENETICS, 1997, 7 (03) :211-221
[7]   Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease [J].
Coenen, Marieke J. H. ;
de Jong, Dirk J. ;
van Marrewijk, Corine J. ;
Derijks, Luc J. J. ;
Vermeulen, Sita H. ;
Wong, Dennis R. ;
Klungel, Olaf H. ;
Verbeek, Andre L. M. ;
Hooymans, Piet M. ;
Peters, Wilbert H. M. ;
te Morsche, Rene H. M. ;
Newman, William G. ;
Scheffer, Hans ;
Guchelaar, Henk-Jan ;
Franke, Barbara .
GASTROENTEROLOGY, 2015, 149 (04) :907-U596
[8]   Genes, epigenetic regulation and environmental factors: Which is the most relevant in developing autoimmune diseases? [J].
Costenbader, Karen H. ;
Gay, Steffen ;
Alarcon-Riquelme, Marta E. ;
Iaccarino, Luca ;
Doria, Andrea .
AUTOIMMUNITY REVIEWS, 2012, 11 (08) :604-609
[9]   The Effect of Common Genetic Variation in 11β-Hydroxysteroid Dehydrogenase Type 1 on Hypothalamic-Pituitary-Adrenal Axis Activity and Incident Depression [J].
Dekker, M. J. H. J. ;
Tiemeier, H. ;
Luijendijk, H. J. ;
Kuningas, M. ;
Hofman, A. ;
de Jong, F. H. ;
Stewart, P. M. ;
Koper, J. W. ;
Lamberts, S. W. J. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (02) :E233-E237
[10]   Effect of glucocorticoid receptor gene polymorphisms in Guillain-Barre syndrome [J].
Dekker, Marieke J. H. J. ;
van den Akker, Erica L. T. ;
Koper, Jan Willem ;
Manenschijn, Laura ;
Geleijns, Karin ;
Ruts, Liselotte ;
van Rijs, Wouter ;
Tio-Gillen, Anne P. ;
van Doorn, Pieter A. ;
Lamberts, Steven W. J. ;
Jacobs, Bart C. .
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 (02) :75-83
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