Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients

被引:31
作者
Goulielmos, George N. [1 ]
Zervou, Maria I. [1 ]
Myrthianou, Effie [1 ]
Burska, Agata [2 ]
Niewold, Timothy B. [3 ]
Ponchel, Frederique [2 ]
机构
[1] Med Sch Crete, Dept Internal Med, Lab Mol Med & Human Genet, Iraklion, Greece
[2] Univ Leeds, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England
[3] Mayo Clin, Dept Immunol, Div Rheumatol, Rochester, MN USA
关键词
Gene polymorphisms; Genotyping technologies; Personalized medicine; Rheumatoid arthritis; ANTI-TNF TREATMENT; EPIGENOME-WIDE ASSOCIATION; GLUTATHIONE-S-TRANSFERASE; JOINT DESTRUCTION; GENOME-WIDE; RARE VARIANTS; RISK-FACTOR; SUSCEPTIBILITY LOCUS; PROTEIN ANTIBODIES; CIGARETTE-SMOKING;
D O I
10.1016/j.gene.2016.02.004
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients. (C) 2016 Elsevier B.V. All rights reserved.
引用
收藏
页码:90 / 101
页数:12
相关论文
共 167 条
[21]   QTL analysis of proteome and transcriptome variations for dissecting the genetic architecture of complex traits in maize [J].
Consoli, L ;
Lefèvre, A ;
Zivy, M ;
de Vienne, D ;
Damerval, C .
PLANT MOLECULAR BIOLOGY, 2002, 48 (05) :575-581
[22]   Promise and pitfalls of the Immunochip [J].
Cortes, Adrian ;
Brown, Matthew A. .
ARTHRITIS RESEARCH & THERAPY, 2011, 13 (01)
[23]   Smoking intensity, duration, and cessation, and the risk of rheumatoid arthritis in women [J].
Costenbader, Karen H. ;
Feskanich, Diane ;
Mandl, Lisa A. ;
Karlson, Elizabeth W. .
AMERICAN JOURNAL OF MEDICINE, 2006, 119 (06) :503-511
[24]   Genetic variants within the MAP kinase signalling network and anti-TNF treatment response in rheumatoid arthritis patients [J].
Coulthard, Lydia R. ;
Taylor, John C. ;
Eyre, Steve ;
Robinson, James I. ;
Wilson, Anthony G. ;
Isaacs, John D. ;
Hyrich, Kimme ;
Emery, Paul ;
Barton, Anne ;
Barrett, Jennifer H. ;
Morgan, Ann W. ;
McDermott, Michael F. .
ANNALS OF THE RHEUMATIC DISEASES, 2011, 70 (01) :98-103
[25]   The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept [J].
Criswell, LA ;
Lum, RF ;
Turner, KN ;
Woehl, B ;
Zhu, YQ ;
Wang, JY ;
Tiwari, HK ;
Edberg, JC ;
Kimberly, RP ;
Moreland, LW ;
Seldin, MF ;
Bridges, SL .
ARTHRITIS AND RHEUMATISM, 2004, 50 (09) :2750-2756
[26]   Rheumatoid Arthritis Risk Allele PTPRC Is Also Associated With Response to Anti-Tumor Necrosis Factor α Therapy [J].
Cui, Jing ;
Saevarsdottir, Saedis ;
Thomson, Brian ;
Padyukov, Leonid ;
van der Helm-van Mil, Annette H. M. ;
Nititham, Joanne ;
Hughes, Laura B. ;
de Vries, Niek ;
Raychaudhuri, Soumya ;
Alfredsson, Lars ;
Askling, Johan ;
Wedren, Sara ;
Ding, Bo ;
Guiducci, Candace ;
Wolbink, Gert Jan ;
Crusius, J. Bart A. ;
van der Horst-Bruinsma, Irene E. ;
Herenius, Marieke ;
Weinblatt, Michael E. ;
Shadick, Nancy A. ;
Worthington, Jane ;
Batliwalla, Franak ;
Kern, Marlena ;
Morgan, Ann W. ;
Wilson, Anthony G. ;
Isaacs, John D. ;
Hyrich, Kimme ;
Seldin, Michael F. ;
Moreland, Larry W. ;
Behrens, Timothy W. ;
Allaart, Cornelia F. ;
Criswell, Lindsey A. ;
Huizinga, Tom W. J. ;
Tak, Paul P. ;
Bridges, S. Louis, Jr. ;
Toes, Rene E. M. ;
Barton, Anne ;
Klareskog, Lars ;
Gregersen, Peter K. ;
Karlson, Elizabeth W. ;
Plenge, Robert M. .
ARTHRITIS AND RHEUMATISM, 2010, 62 (07) :1849-1861
[27]   RHEUMATOID ARTHRITIS Are ACPA-positive and ACPA-negative RA the same disease? [J].
Daha, Nina A. ;
Toes, Rene E. M. .
NATURE REVIEWS RHEUMATOLOGY, 2011, 7 (04) :203-204
[28]   Novel genetic association of the VTCN1 region with rheumatoid arthritis [J].
Daha, Nina A. ;
Lie, Benedicte A. ;
Trouw, L. A. ;
Stoeken, Gerrie ;
Schonkeren, Joris J. M. ;
Ding, Bo ;
Kvien, Tore K. ;
Schilham, Marco W. ;
Padyukov, Leonid ;
Huizinga, T. W. J. ;
Toes, Rene .
ANNALS OF THE RHEUMATIC DISEASES, 2012, 71 (04) :567-571
[29]   TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis [J].
Daien, Claire Immediato ;
Fabre, Sylvie ;
Rittore, Cecile ;
Soler, Stephan ;
Daien, Vincent ;
Tejedor, Gautier ;
Cadart, Doris ;
Molinari, Nicolas ;
Daures, Jean-Pierre ;
Jorgensen, Christian ;
Touitou, Isabelle .
JOINT BONE SPINE, 2012, 79 (05) :471-475
[30]   Pharmacogenetics: implications for therapy in rheumatic diseases [J].
Davila, Lesley ;
Ranganathan, Prabha .
NATURE REVIEWS RHEUMATOLOGY, 2011, 7 (09) :537-550