title: Influence of the serotonin transporter 5HTTLPR polymorphism on symptom severity in irritable bowel syndrome.
abstract: 5HTTLPR polymorphism of serotonin transporter yields short (S) and long (L) alleles. SS and LS genotypes are associated with reduced expression of serotonin transporter. This cross-sectional study investigated the association of 5HTTLPR with symptom severity of irritable bowel syndrome (IBS). Patients with IBS (Rome III) and healthy controls were included. Genomic DNA was extracted from saliva, and 5HTTLPR alleles were assessed by polymerase chain reaction. IBS symptom severity was evaluated by means of IBS-SSS questionnaire. Two hundreds and four IBS patients (159 females; mean age: 39.6±12.3 years; 106 with constipation: C-IBS; 98 with diarrhea: D-IBS) and 200 healthy controls (154 females; mean age: 40.4±15.8 years) were enrolled. The overall IBS-SSS value was higher in LS/SS than LL patients (319.0±71.5 versus 283.8±62.3; P = 0.0006). LS/SS patients had also higher values of abdominal pain (59.7±21.0 versus 51.0±18.8; P = 0.020) and bowel dissatisfaction (80.1±23.9 versus 70.5±22.8; P = 0.035). The overall IBS-SSS values in C-IBS and D-IBS patients were 317.2±68.3 and 296.1±71.4, respectively (P = 0.192), with significantly higher values for abdominal distension (65.0±24.4 versus 51.4±24.8; P = 0.0006), but not for bowel dissatisfaction (80.5±21.7 versus 72.9±25.7; P = 0.138). Frequencies of 5HTTLPR genotypes did not differ significantly when comparing IBS patients (overall or upon stratification in C-IBS and D-IBS) with healthy controls. In conclusion, the LS and SS genotypes are significantly correlated with IBS symptom severity, although their possible direct causal role remains to be proven. In addition, the present findings do not support an association of 5HTTLPR with IBS or its clinical presentation in terms of bowel habit predominance.
authors: Division of Pharmacology and Chemotherapy, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
authors: Rocchina
authors: R
authors: Colucci
authors: Dario
authors: D
authors: Gambaccini
authors: Narcisa
authors: N
authors: Ghisu
authors: Giuseppe
authors: G
authors: Rossi
authors: Francesco
authors: F
authors: Costa
authors: Marco
authors: M
authors: Tuccori
authors: Nicola
authors: N
authors: De Bortoli
authors: Matteo
authors: M
authors: Fornai
authors: Luca
authors: L
authors: Antonioli
authors: Angelo
authors: A
authors: Ricchiuti
authors: Maria Gloria
authors: MG
authors: Mumolo
authors: Santino
authors: S
authors: Marchi
authors: Corrado
authors: C
authors: Blandizzi
authors: Massimo
authors: M
authors: Bellini
mesh_terms: D000328:Adult; D005260:Female; D005838:Genotype; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D050486:Serotonin Plasma Membrane Transport Proteins
references: Mol Psychiatry. 2004 May;9(5):433-41
references: 15037864
references: Am J Physiol Gastrointest Liver Physiol. 2008 Aug;295(2):G219-25
references: 18511740
references: Dig Dis Sci. 2007 Nov;52(11):2942-9
references: 17394071
references: Aliment Pharmacol Ther. 2007 Feb 1;25(3):323-32
references: 17217445
references: Eur J Gastroenterol Hepatol. 2008 Jul;20(7):659-67
references: 18679069
references: Am J Gastroenterol. 2009 Jan;104 Suppl 1:S1-35
references: 19521341
references: Am J Gastroenterol. 2000 Oct;95(10):2698-709
references: 11051338
references: Aliment Pharmacol Ther. 1997 Apr;11(2):395-402
references: 9146781
references: Gastroenterol Clin North Am. 2011 Mar;40(1):45-67
references: 21333900
references: Gastroenterology. 2000 May;118(5):842-8
references: 10784583
references: Nat Rev Genet. 2005 Nov;6(11):847-59
references: 16304600
references: Am J Physiol Gastrointest Liver Physiol. 2012 May 15;302(10):G1075-84
references: 22403795
references: Biol Psychiatry. 2004 Jun 1;55(11):1090-4
references: 15158428
references: Prog Neuropsychopharmacol Biol Psychiatry. 2008 Oct 1;32(7):1735-9
references: 18700161
references: Gastroenterology. 1994 Jul;107(1):271-93
references: 8020671
references: Trends Mol Med. 2008 Jul;14(7):295-304
references: 18550438
references: Science. 1996 Nov 29;274(5292):1527-31
references: 8929413
references: Curr Drug Targets. 2006 Dec;7(12):1659-69
references: 17168841
references: Gut. 2004 Oct;53(10):1452-8
references: 15361494
references: Neurogastroenterol Motil. 2007 Jun;19(6):465-70
references: 17564628
references: Aliment Pharmacol Ther. 2006 Apr 15;23(8):1067-76
references: 16611266
references: Neurogastroenterol Motil. 2004 Jun;16(3):299-309
references: 15198652
references: Neurogastroenterol Motil. 2012 Jun;24(6):560-5, e254-5
references: 22435794
references: Nat Neurosci. 2005 Jun;8(6):828-34
references: 15880108
references: Dig Dis Sci. 2009 Dec;54(12):2663-70
references: 19125330
references: Gut. 2004 Jun;53(6):829-37
references: 15138209
references: Science. 2003 Jul 18;301(5631):386-9
references: 12869766
references: Eur J Gastroenterol Hepatol. 2010 Jul;22(7):856-61
references: 19561511
references: Lancet. 2007 May 12;369(9573):1586-8
references: 17499587
references: Dig Liver Dis. 2007 Mar;39(3):201-15
references: 17267314
references: J Neurochem. 1996 Jun;66(6):2621-4
references: 8632190
references: J Clin Gastroenterol. 2009 Nov-Dec;43(10):957-61
references: 19687750
references: Neuroimage. 2009 Sep;47(3):946-51
references: 19426812
references: Nat Clin Pract Gastroenterol Hepatol. 2007 Feb;4(2):102-10
references: 17268545
references: Am J Physiol. 1998 Sep;275(3):G433-48
references: 9724254
references: Aliment Pharmacol Ther. 2007 Oct 1;26(7):979-86
references: 17877505
references: Gastroenterology. 2006 Apr;130(5):1480-91
references: 16678561
references: Eur Neuropsychopharmacol. 2001 Dec;11(6):457-74
references: 11704423
references: Gut. 2009 Mar;58(3):367-78
references: 19001059
references: Korean J Gastroenterol. 2004 Jan;43(1):18-22
references: 14745247
references: Neurogastroenterol Motil. 2006 Nov;18(11):995-1000
references: 17040410
references: J Clin Gastroenterol. 2005 May-Jun;39(5 Suppl 3):S184-93
references: 15798484
references: Gastroenterol Clin North Am. 2011 Mar;40(1):21-43
references: 21333899