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
[1]  
Acosta-Colman I, 2013, PHARMACOGENOMICS, V14, P727, DOI [10.2217/PGS.13.60, 10.2217/pgs.13.60]
[2]   Gene expression profiling in murine autoimmune arthritis during the initiation and progression of joint inflammation [J].
Adarichev, VA ;
Vermes, C ;
Hanyecz, A ;
Mikecz, K ;
Bremer, EG ;
Glant, TT .
ARTHRITIS RESEARCH & THERAPY, 2005, 7 (02) :R196-R207
[3]   Epidemiology of adult rheumatoid arthritis [J].
Alamanos, Y ;
Drosos, AA .
AUTOIMMUNITY REVIEWS, 2005, 4 (03) :130-136
[4]   A map of human genome variation from population-scale sequencing [J].
Altshuler, David ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Collins, Francis S. ;
De la Vega, Francisco M. ;
Donnelly, Peter ;
Egholm, Michael ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Knoppers, Bartha M. ;
Lander, Eric S. ;
Lehrach, Hans ;
Mardis, Elaine R. ;
McVean, Gil A. ;
Nickerson, DebbieA. ;
Peltonen, Leena ;
Schafer, Alan J. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Deiros, David ;
Metzker, Mike ;
Muzny, Donna ;
Reid, Jeff ;
Wheeler, David ;
Wang, Jun ;
Li, Jingxiang ;
Jian, Min ;
Li, Guoqing ;
Li, Ruiqiang ;
Liang, Huiqing ;
Tian, Geng ;
Wang, Bo ;
Wang, Jian ;
Wang, Wei ;
Yang, Huanming ;
Zhang, Xiuqing ;
Zheng, Huisong ;
Lander, Eric S. ;
Altshuler, David L. ;
Ambrogio, Lauren ;
Bloom, Toby ;
Cibulskis, Kristian ;
Fennell, Tim J. ;
Gabriel, Stacey B. .
NATURE, 2010, 467 (7319) :1061-1073
[5]  
Atzeni F., 2012, AUTOIMMUNITY, V12, P575
[6]   Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes [J].
Barton, Anne ;
Eyre, Steve ;
Ke, Xiayi ;
Hinks, Anne ;
Bowes, John ;
Flynn, Edward ;
Martin, Paul ;
Wilson, Anthony G. ;
Morgan, Ann W. ;
Emery, Paul ;
Steer, Sophia ;
Hocking, Lynne J. ;
Reid, David M. ;
Harrison, Pille ;
Wordsworth, Paul ;
Thomson, Wendy ;
Worthington, Jane .
HUMAN MOLECULAR GENETICS, 2009, 18 (13) :2518-2522
[7]   Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis [J].
Behrens, Edward M. ;
Finkel, Terri H. ;
Bradfield, Jonathan P. ;
Kim, Cecilia E. ;
Linton, LaKenya ;
Casalunovo, Tracy ;
Frackelton, Edward C. ;
Santa, Erin ;
Otieno, F. George ;
Glessner, Joseph T. ;
Chiavacci, Rosetta M. ;
Grant, Struan F. A. ;
Hakonarson, Hakon .
ARTHRITIS AND RHEUMATISM, 2008, 58 (07) :2206-2207
[8]   Methotrexate related adverse effects in patients with rheumatoid arthritis are associated with the A1298C polymorphism of the MTHFR gene [J].
Berkun, Y ;
Levartovsky, D ;
Rubinow, A ;
Orbach, H ;
Aamar, S ;
Grenader, T ;
Abou Atta, I ;
Mevorach, D ;
Friedman, G ;
Ben-Yehuda, A .
ANNALS OF THE RHEUMATIC DISEASES, 2004, 63 (10) :1227-1231
[9]   A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes [J].
Bottini, N ;
Musumeci, L ;
Alonso, A ;
Rahmouni, S ;
Nika, K ;
Rostamkhani, M ;
MacMurray, J ;
Meloni, GF ;
Lucarelli, P ;
Pellecchia, M ;
Eisenbarth, GS ;
Comings, D ;
Mustelin, T .
NATURE GENETICS, 2004, 36 (04) :337-338
[10]   Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients [J].
Bowes, John D. ;
Potter, Catherine ;
Gibbons, Laura J. ;
Hyrich, Kimme ;
Plant, Darren ;
Morgan, Ann W. ;
Wilson, Anthony G. ;
Isaacs, John D. ;
Worthington, Jane ;
Barton, Anne .
PHARMACOGENETICS AND GENOMICS, 2009, 19 (04) :319-323