Influence of the Serotonin Transporter 5HTTLPR Polymorphism on Symptom Severity in Irritable Bowel Syndrome

Colucci, Rocchina; Gambaccini, Dario; Ghisu, Narcisa; Rossi, Giuseppe; Costa, Francesco; Tuccori, Marco; De Bortoli, Nicola; Fornai, Matteo; Antonioli, Luca; Ricchiuti, Angelo; Mumolo, Maria Gloria; Marchi, Santino; Blandizzi, Corrado; Bellini, Massimo
February 2013
PLoS ONE;Feb2013, Vol. 8 Issue 2, p1
Academic Journal
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.


Related Articles

  • Human-Specific HERV-K Insertion Causes Genomic Variations in the Human Genome. Shin, Wonseok; Lee, Jungnam; Son, Seung-Yeol; Ahn, Kung; Kim, Heui-Soo; Han, Kyudong // PLoS ONE;Apr2013, Vol. 8 Issue 4, p1 

    Human endogenous retroviruses (HERV) sequences account for about 8% of the human genome. Through comparative genomics and literature mining, we identified a total of 29 human-specific HERV-K insertions. We characterized them focusing on their structure and flanking sequence. The results showed...

  • The serotonin transporter gene polymorphism (5-HTTLPR) and irritable bowel syndrome: a metaanalysis of 25 studies. Zhi-Feng Zhang; Zhi-Jun Duan; Li-Xia Wang; Dong Yang; Gang Zhao; Lin Zhang // BMC Gastroenterology;2014, Vol. 14 Issue 1, p1 

    Background The results of previous studies assessing the association between the 5-HTTLPR polymorphism of serotonin transporter gene and irritable bowel syndrome (IBS) are inconsistent. The aim of this study was to clarify the association between the 5-HTTLPR mutation and the presence of IBS and...

  • Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity. Kim, So Young; Park, Gibeom; Han, Kyu-Hee; Kim, Ahreum; Koo, Ja-Won; Chang, Sun O.; Oh, Seung Ha; Park, Woong-Yang; Choi, Byung Yoon // PLoS ONE;Apr2013, Vol. 8 Issue 4, p1 

    A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing...

  • Association of SMAD7 rs12953717 Polymorphism with Cancer: A Meta-Analysis. Zhang, Hongtuan; Ma, Hui; Xu, Yong; Li, Liang // PLoS ONE;Mar2013, Vol. 8 Issue 3, p1 

    Background: Accumulating evidence has suggested that Mothers against decapentaplegic homolog 7 (SMAD7) rs12953717 polymorphism might be related to cancer risk. However, epidemiologic findings have been inconsistent. We therefore performed a meta-analysis to clarify the association between the...

  • Lack of Structural Variation but Extensive Length Polymorphisms and Heteroplasmic Length Variations in the Mitochondrial DNA Control Region of Highly Inbred Crested Ibis, Nipponia nippon. He, Xue-Lian; Ding, Chang-Qing; Han, Jian-Lin // PLoS ONE;Jun2013, Vol. 8 Issue 6, p1 

    The animal mitochondrial DNA (mtDNA) length polymorphism and heteroplasmy are accepted to be universal. Here we report the lack of structural variation but the presence of length polymorphism as well as heteroplasmy in mtDNA control region of an endangered avian species – the Crested Ibis...

  • Human Trace Amine-Associated Receptor TAAR5 Can Be Activated by Trimethylamine. Wallrabenstein, Ivonne; Kuklan, Jonas; Weber, Lea; Zborala, Sandra; Werner, Markus; Altmüller, Janine; Becker, Christian; Schmidt, Anna; Hatt, Hanns; Hummel, Thomas; Gisselmann, Günter // PLoS ONE;Feb2013, Vol. 8 Issue 2, p1 

    In addition to the canonical olfactory receptors, TAARs were currently suggested to be a second class of chemosensory receptors in the olfactory epithelium of vertebrates. In contrast to several deorphanized murine TAARs, agonists for the intact human TAAR genes 2, 5, 6, 8 and 9 that are...

  • Ancestral Stories of Ghanaian Bimoba Reflect Millennia-Old Genetic Lineages. Sanchez-Faddeev, Hernando; Pijpe, Jeroen; van Bodegom, David; van der Hulle, Tom; van der Gaag, Kristiaan J.; Eriksson, Ulrika K.; Spear, Thomas; Westendorp, Rudi G. J.; de Knijff, Peter // PLoS ONE;Jun2013, Vol. 8 Issue 6, p1 

    Oral history and oral genealogies are mechanisms of collective memory and a main cultural heritage of many populations without a writing system. In the effort to analytically address the correspondence between genetic data and historical genealogies, anthropologists hypothesised that genealogies...

  • A New Multiplex Assay of 17 Autosomal STRs and Amelogenin for Forensic Application. Zhang, Suhua; Tian, Huaizhou; Wu, Jun; Zhao, Shumin; Li, Chengtao // PLoS ONE;Feb2013, Vol. 8 Issue 2, p1 

    This paper describes a newly devised autosomal short tandem repeat (STR) multiplex polymerase chain reaction (PCR) systems for 17 autosomal loci (D1S1656, D2S441, D3S1358, D3S3045, D6S477, D7S3048, D8S1132, D10S1435, D10S1248, D11S2368, D13S325, D14S608, D15S659, D17S1290, D18S535, D19S253 and...

  • Assessment of the Relationship between Self-Declared Ethnicity, Mitochondrial Haplogroups and Genomic Ancestry in Brazilian Individuals. Cardena, Mari M. S. G.; Ribeiro-dos-Santos, Ândrea; Santos, Sidney; Mansur, Alfredo J.; Pereira, Alexandre C.; Fridman, Cintia // PLoS ONE;Apr2013, Vol. 8 Issue 4, p1 

    In populations that have a high degree of admixture, such as in Brazil, the sole use of ethnicity self-declaration information is not a good method for classifying individuals regarding their ethnicity. Here, we evaluate the relationship of self-declared ethnicities with genomic ancestry and...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics