The genetic burden of inflammatory bowel diseases: implications for the clinic?

被引:4
作者
Gabbani, Tommaso [1 ]
Deiana, Simona [1 ]
Annese, Antonio Luca [1 ]
Lunardi, Sarah [2 ]
Annese, Vito [1 ]
机构
[1] AOU Careggi Univ Hosp, Div Gastroenterol, Florence, Italy
[2] AOU Careggi Univ Hosp, Div Internal Med 4, Florence, Italy
关键词
Crohn's disease; ulcerative colitis; inflammatory bowel disease; genetics; genotype; phenotype; genetic risk factors; GENOME-WIDE ASSOCIATION; INOSINE TRIPHOSPHATE PYROPHOSPHATASE; COMPLICATED CROHNS-DISEASE; ULCERATIVE-COLITIS; SUSCEPTIBILITY LOCI; THIOPURINE METHYLTRANSFERASE; CONFER SUSCEPTIBILITY; CIRCULATING MICRORNA; XANTHINE-OXIDASE; DNA METHYLATION;
D O I
10.1080/17474124.2016.1196131
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Introduction: Inflammatory bowel diseases (IBD), which include Crohn's disease (CD) and ulcerative colitis (UC), are characterized by chronic intestinal inflammation. Their etiology is multifactorial, with complex interactions between genetic and environmental factors, which are still largely unclear.Areas covered: The influence of genetics is clearly demonstrated by important epidemiological data, including familial aggregation and concordance in twins. In 2001, the first genetic susceptibility gene for IBD, the NOD2 gene, was identified. Currently, thanks to genetic wide association studies, over 200 susceptibility genetic markers are know.Expert commentary: However, clinically highly relevant gene associations are still very limited and the usefulness of these information in the current clinical strategies for treatment and surveillance of IBD is weak. Nevertheless, the recent identification of some genetic risk variants has clarified some newbiological pathways of these diseases thus paving the way for the discoveries in the near future of new targeted therapies.
引用
收藏
页码:1109 / 1117
页数:9
相关论文
共 105 条
  • [61] Genetics of inflammatory bowel disease: progress and prospects
    Mathew, CG
    Lewis, CM
    [J]. HUMAN MOLECULAR GENETICS, 2004, 13 : R161 - R168
  • [62] Role of TNFRSF1B polymorphisms in the response of Crohn's disease patients to infliximab
    Medrano, L. M.
    Taxonera, C.
    Marquez, A.
    Barreiro-de Acosta, M.
    Gomez-Garcia, M.
    Gonzalez-Artacho, C.
    Perez-Calle, J. L.
    Bermejo, F.
    Lopez-Sanroman, A.
    Martin Arranz, M. D.
    Gisbert, J. P.
    Mendoza, J. L.
    Martin, J.
    Urcelay, E.
    Nunez, C.
    [J]. HUMAN IMMUNOLOGY, 2014, 75 (01) : 71 - 75
  • [63] Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis
    Mirza, MM
    Lee, J
    Teare, D
    Hugot, JP
    Laurent-Puig, P
    Colombel, JF
    Hodgson, SV
    Thomas, G
    Easton, DF
    Lennard-Jones, JE
    Mathew, CG
    [J]. JOURNAL OF MEDICAL GENETICS, 1998, 35 (03) : 218 - 221
  • [64] Dysfunction of the intestinal microbiome in inflammatory bowel disease and treatment
    Morgan, Xochitl C.
    Tickle, Timothy L.
    Sokol, Harry
    Gevers, Dirk
    Devaney, Kathryn L.
    Ward, Doyle V.
    Reyes, Joshua A.
    Shah, Samir A.
    LeLeiko, Neal
    Snapper, Scott B.
    Bousvaros, Athos
    Korzenik, Joshua
    Sands, Bruce E.
    Xavier, Ramnik J.
    Huttenhower, Curtis
    [J]. GENOME BIOLOGY, 2012, 13 (09): : R79
  • [65] Role of genetic and environmental factors in British twins with inflammatory bowel disease
    Ng, Siew C.
    Woodrow, Susannah
    Patel, Nisha
    Subhani, Javaid
    Harbord, Marcus
    [J]. INFLAMMATORY BOWEL DISEASES, 2012, 18 (04) : 725 - 736
  • [66] MicroRNA-7 Modulates CD98 Expression during Intestinal Epithelial Cell Differentiation
    Nguyen, Hang Thi Thu
    Dalmasso, Guillaume
    Yan, Yutao
    Laroui, Hamed
    Dahan, Stephanie
    Mayer, Lloyd
    Sitaraman, Shanthi V.
    Merlin, Didier
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (02) : 1479 - 1489
  • [67] Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway
    Nimmo, Elaine R.
    Prendergast, James G.
    Aldhous, Marian C.
    Kennedy, Nicholas A.
    Henderson, Paul
    Drummond, Hazel E.
    Ramsahoye, Bernard H.
    Wilson, David C.
    Semple, Colin A.
    Satsangi, Jack
    [J]. INFLAMMATORY BOWEL DISEASES, 2012, 18 (05) : 889 - 899
  • [68] A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    Ogura, Y
    Bonen, DK
    Inohara, N
    Nicolae, DL
    Chen, FF
    Ramos, R
    Britton, H
    Moran, T
    Karaliuskas, R
    Duerr, RH
    Achkar, JP
    Brant, SR
    Bayless, TM
    Kirschner, BS
    Hanauer, SB
    Nuñez, G
    Cho, JH
    [J]. NATURE, 2001, 411 (6837) : 603 - 606
  • [69] Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis
    Ohmen, JD
    Yang, HY
    Yamamoto, KK
    Zhao, HY
    Ma, YH
    Bentley, LG
    Huang, ZH
    Gerwehr, S
    Pressman, S
    McElree, C
    Targan, S
    Rotter, JI
    FischelGhodsian, N
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (10) : 1679 - 1683
  • [70] Dynamic Changes in the Expression of MicroRNA-31 During Inflammatory Bowel Disease-associated Neoplastic Transformation
    Olaru, Alexandru V.
    Selaru, Florin M.
    Mori, Yuriko
    Vazquez, Christine
    David, Stefan
    Paun, Bogdan
    Cheng, Yulan
    Jin, Zhe
    Yang, Jian
    Agarwal, Rachana
    Abraham, John M.
    Dassopoulos, Themistocles
    Harris, Mary
    Bayless, Theodore M.
    Kwon, John
    Harpaz, Noam
    Livak, Ferenc
    Meltzer, Stephen J.
    [J]. INFLAMMATORY BOWEL DISEASES, 2011, 17 (01) : 221 - 231