Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome

Gut

Volumn 63, Issue 7, 2014, Pages 1103-1111

  Wouters, Mira M ^a   Lambrechts, Diether ^b,c   Knapp, Michael ^d   Cleynen, Isabelle ^a   Whorwell, Peter ^e   Agréus, Lars ^f   Dlugosz, Aldona ^f   Schmidt, Peter Thelin ^f   Halfvarson, Jonas ^g   Simrén, Magnus ^h   Ohlsson, Bodil ⁱ   Karling, Pontus ^j   Van Wanrooy, Sander ^a   Mondelaers, Stéphanie ^a   Vermeire, Severine ^a   Lindberg, Greger ^f   Spiller, Robin ^k   Dukes, George ^l   D'Amato, Mauro ^f   Boeckxstaens, Guy ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f KAROLINSKA INSTITUTE   (Sweden)

^g ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^h UNIVERSITY OF GOTHENBURG   (Sweden)

ⁱ LUND UNIVERSITY HOSPITAL   (Sweden)

^j UMEÅ UNIVERSITY   (Sweden)

^k QUEEN S MEDICAL CENTRE   (United Kingdom)

^l GLAXOSMITHKLINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN CDC42;

ADULT; ARTICLE; CDC42 GENE; CONSTIPATION; CONTROLLED STUDY; DIARRHEA; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; IRRITABLE COLON; MAJOR CLINICAL STUDY; MALE; NXPH1 GENE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECTUM BIOPSY; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC POLYMORPHISMS; IMMUNE RESPONSE;

ADULT; CASE-CONTROL STUDIES; CDC42 GTP-BINDING PROTEIN; COHORT STUDIES; CONSTIPATION; DIARRHEA; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GENOTYPING TECHNIQUES; GLYCOPROTEINS; HUMANS; IRRITABLE BOWEL SYNDROME; MALE; MIDDLE AGED; NEUROPEPTIDES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84902264271     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2013-304570     Document Type: Article

References (47)

1. Longstreth GF, Thompson WG, Chey WD, et al. Functional bowel disorders. Gastroenterology 2006;130:1480-91.
2. Ohman L, Simren M. Pathogenesis of IBS: role of inflammation, immunity and neuroimmune interactions. Nat Rev Gastroenterol Hepatol 2010;7:163-73.
3. Jeffery IB, O'Toole PW, Ohman L, et al. An irritable bowel syndrome subtype defined by species-specific alterations in faecal microbiota. Gut 2011;61:997-1006.
4. Camilleri M, Lasch K, Zhou W. The Confluence of Increased Permeability, Inflammation, and Pain in Irritable Bowel Syndrome. Am J Physiol Gastrointest Liver Physiol 2012;303:G775-85.
5. Saito YA, Petersen GM, Larson JJ, et al. Familial aggregation of irritable bowel syndrome: a family case-control study. Am J Gastroenterol 2010;105:833-41.
6. Kalantar JS, Locke GR III, Zinsmeister AR, et al. Familial aggregation of irritable bowel syndrome: a prospective study. Gut 2003;52:1703-7. (Pubitemid 37510389)
7. Levy RL, Jones KR, Whitehead WE, et al. Irritable bowel syndrome in twins: heredity and social learning both contribute to etiology. Gastroenterology 2001;121:799-804. (Pubitemid 32959390)
8. Saito YA, Talley NJ. Genetics of irritable bowel syndrome. Am J Gastroenterol 2008;103:2100-4.
9. Bengtson MB, Ronning T, Vatn MH, et al. Irritable bowel syndrome in twins: genes and environment. Gut 2006;55:1754-9. (Pubitemid 44893573)
10. Lembo A, Zaman M, Jones M, et al. Influence of genetics on irritable bowel syndrome, gastro-oesophageal reflux and dyspepsia: a twin study. Aliment Pharmacol Ther 2007;25:1343-50. (Pubitemid 46763461)
11. Morris-Yates A, Talley NJ, Boyce PM, et al. Evidence of a genetic contribution to functional bowel disorder. Am J Gastroenterol 1998;93:1311-17. (Pubitemid 29076933)
12. Mohammed I, Cherkas LF, Riley SA, et al. Genetic influences in irritable bowel syndrome: a twin study. Am J Gastroenterol 2005;100:1340-4. (Pubitemid 40904359)
13. Villani AC, Lemire M, Thabane M, et al. Genetic risk factors for post-infectious irritable bowel syndrome following a waterborne outbreak of gastroenteritis. Gastroenterology 2010;138:1502-13.
14. Camilleri M, Carlson P, Zinsmeister AR, et al. Neuropeptide S receptor induces neuropeptide expression and associates with intermediate phenotypes of functional gastrointestinal disorders. Gastroenterology 2010;138:98-107.
15. Zucchelli M, Camilleri M, Nixon AA, et al. Association of TNFSF15 polymorphism with irritable bowel syndrome. Gut 2011;60:1671-7.
16. Swan C, Duroudier NP, Campbell E, et al. Identifying and testing candidate genetic polymorphisms in the irritable bowel syndrome (IBS): association with TNFSF15 and TNFalpha. Gut 2012;62:985-94.
17. Pata C, Erdal E, Yazc K, et al. Association of the -1438 G/A and 102T/C polymorphism of the 5-Ht2A receptor gene with irritable bowel syndrome 5-Ht2A gene polymorphism in irritable bowel syndrome. J Clin Gastroenterol 2004;38:561-6. (Pubitemid 38955412)
18. Jarrett ME, Kohen R, Cain KC, et al. Relationship of SERT polymorphisms to depressive and anxiety symptoms in irritable bowel syndrome. Biol Res Nurs 2007;9:161-9.
19. Jun. S, Kohen R, Cain KC, et al. Associations of tryptophan hydroxylase gene polymorphisms with irritable bowel syndrome. Neurogastroenterol Motil 2011;23:233-9.
20. Kohen R, Jarrett ME, Cain KC, et al. The serotonin transporter polymorphism rs25531 is associated with irritable bowel syndrome. Dig Dis Sci 2009;54:2663-70.
21. Niesler B, Kapeller J, Fell C, et al. 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex. Eur J Gastroenterol Hepatol 2010;22:856-61.
22. van der Veek PP, van den BM, de Kroon YE, et al. Role of tumor necrosis factor-alpha and interleukin-10 gene polymorphisms in irritable bowel syndrome. Am J Gastroenterol 2005;100:2510-16.
23. Barkhordari E, Rezaei N, Mahmoudi M, et al. T-helper 1, T-helper 2, and T-regulatory cytokines gene polymorphisms in irritable bowel syndrome. Inflammation 2010;33:281-6.
24. Barkhordari E, Rezaei N, Ansaripour B, et al. Proinflammatory cytokine gene polymorphisms in irritable bowel syndrome. J Clin Immunol 2010;30:74-9.
25. Camilleri M, Katzka DA. Irritable bowel syndrome: methods, mechanisms, and pathophysiology. Genetic epidemiology and pharmacogenetics in irritable bowel syndrome. Am J Physiol Gastrointest Liver Physiol 2012;302:G1075-84.
26. Camilleri M. Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics. Dig Dis Sci 2009;54:2318-24.
27. Saito YA. The role of genetics in IBS. Gastroenterol Clin North Am 2011;40:45-67.
28. Camilleri M, Carlson P, McKinzie S, et al. Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis. Neurogastroenterol Motil 2011;23:935-44.
29. Camilleri M, Carlson P, McKinzie S, et al. Genetic variation in endocannabinoid metabolism, gastrointestinal motility, and sensation. Am J Physiol Gastrointest Liver Physiol 2008;294:G13-9.
30. Saito YA, Locke GR III, Zimmerman JM, et al. A genetic association study of 5-HTT LPR and GNbeta3 C825T polymorphisms with irritable bowel syndrome. Neurogastroenterol Motil 2007;19:465-70. (Pubitemid 46905394)
31. Wouters MM. New insight in the pathogenesis of functional gastrointestinal disorders: association between genetics and colonic transit. Neurogastroenterol Motil 2011;23:893-7.
32. Maier LM, Lowe CE, Cooper J, et al. IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. PLoS Genet 2009;5:e1000322.
33. van den Oord EJ, Kuo PH, Hartmann AM, et al. Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism. Arch Gen Psychiatry 2008;65:1062-71.
34. Spiller RC, Jenkins D, Thornley JP, et al. Increased rectal mucosal enteroendocrine cells, T lymphocytes, and increased gut permeability following acute Campylobacter enteritis and in post-dysenteric irritable bowel syndrome. Gut 2000;47:804-11.
35. Kiesler P, Shakya A, Tantin D, et al. An allergy-associated polymorphism in a novel regulatory element enhances IL13 expression. Hum Mol Genet 2009;18:4513-20.
36. Blanchard EB, Scharff L, Schwarz SP, et al. The role of anxiety and depression in the irritable bowel syndrome. Behav Res Ther 1990;28:401-5. (Pubitemid 20333692)
37. Surdea-Blaga T, Baban A, Dumitrascu DL. Psychosocial determinants of irritable bowel syndrome. World J Gastroenterol 2012;18:616-26.
38. Kinzfogl J, Hangoc G, Broxmeyer HE. Neurexophilin 1 suppresses the proliferation of hematopoietic progenitor cells. Blood 2011;118:565-75.
39. Dunlop SP, Hebden J, Campbell E, et al. Abnormal intestinal permeability in subgroups of diarrhea-predominant irritable bowel syndromes. Am J Gastroenterol 2006;101:1288-94. (Pubitemid 43829995)
40. O'Dushlaine C, Kenny E, Heron E, et al. Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry 2011;16:286-92.
41. Sakamori R, Das S, Yu S, et al. Cdc42 and Rab8a are critical for intestinal stem cell division, survival, and differentiation in mice. J Clin Invest 2012;122:1052-65.
42. Melendez J, Liu M, Sampson L, et al. Cdc42 Coordinates Proliferation, Polarity, Migration, and Differentiation of Small Intestinal Epithelial Cells in Mice. Gastroenterology Published Online First: 20 Jun. 2013. pii: S0016-5085 (13) 00923-2. doi: 10.1053/j.gastro.2013.06.021.
43. Dean P, Young L, Quitard S, et al. Insights into the pathogenesis of enteropathogenic E. coli using an improved intestinal enterocyte model. PLoS ONE 2013;8:e55284.
44. Kroschewski R, Hall A, Mellman I. Cdc42 controls secretory and endocytic transport to the basolateral plasma membrane of MDCK cells. Nat Cell Biol 1999;1:8-13. (Pubitemid 129495003)
45. Haila S, Hastbacka J, Bohling T, et al. SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. J Histochem Cytochem 2001;49:973-82. (Pubitemid 32675004)
46. Ohana E, Shcheynikov N, Park M, et al. Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl-exchanger regulated by extracellular Cl-. J Biol Chem 2012;287:5122-32.
47. Noble CL, Abbas AR, Lees CW, et al. Characterization of intestinal gene expression profiles in Crohn's disease by genome-wide microarray analysis. Inflamm Bowel Dis 2010;16:1717-28.