Serotonin transporter gene polymorphism and irritable bowel syndrome

Park, Joo Myun; Choi, MG; Ja, Park Seun; Jh, Oh; Yk, Cho; Is, Lee; Sw, Kim; Choi, Kyung Hwa; Is, Chung

doi:10.1111/j.1365-2982.2006.00829.x

Cited by 79 publications

(62 citation statements)

References 24 publications

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“…Regarding the SERT polymorphism, the frequencies of the SERT ss genotype and s allele were higher in IBS patients that in healthy subjects. Our findings are in agreement with the study of Park et al [23]. The SERT gene encoding the SERT protein is located on chromosome 17q12.2-q1.…”

Section: Discussionsupporting

confidence: 96%

Serotonin Transporter and G Protein Beta 3 Subunit Gene Polymorphisms in Greeks with Irritable Bowel Syndrome

et al. 2011

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Section: Discussionsupporting

confidence: 96%

Serotonin Transporter and G Protein Beta 3 Subunit Gene Polymorphisms in Greeks with Irritable Bowel Syndrome

et al. 2011

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“…However, there are other studies reporting a significant association between IBS-D and the S/S genotype. 34,35 An Indian study demonstrated that the frequency of SLC6A4 S/S genotype was higher in IBS-D than IBS-C, IBS-M and controls. 36 These genotypic results were different from our study, but taking the serotonin level and its association on subtypes into consideration, they might be in line with our study at least in part.…”

Section: Discussionmentioning

confidence: 99%

Association Between SLC6A4 Serotonin Transporter Gene Lainked Polymorphic Region and ADRA2A −1291C>G and Irritable Bowel Syndrome in Korea

Choi

Hwang

Kim

et al. 2014

J Neurogastroenterol Motil

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Background/AimsDespite numerous studies on the relation of genetic polymorphisms with irritable bowel syndrome (IBS), the results still remain inconclusive. The aim of this study was to assess the possible association between SLC6A4 serotonin transporter gene linked polymorphic region (5-HTTLPR), ADRA2A −1291C>G, GNB3 825C>T, CCK1R intron 779T>C and TRPV1 945G>C polymorphisms and IBS based on Rome III criteria in Korea. MethodsStudy subjects were prospectively recruited from visitors to Seoul National University Bundang Hospital between July 2009 and January 2014. Ninety-nine IBS patients and 171 healthy controls were enrolled. Polymorphisms of above-mentioned 5 genes were genotyped. Serum serotonin from 101 participants was measured by ELISA and compared according to SLC6A4 5-HTTLPR polymorphisms and IBS subtypes. ResultsRegarding SLC6A4 5-HTTLPR polymorphism, L/L genotype was significantly associated with the total IBS, constipation predominant IBS (IBS-C) and mixture of diarrhea and constipation IBS (IBS-M) (adjusted OR: 4.35, 95% CI: 1.04-16.67; adjusted OR: 11.11, 95% CI: 1.69-50.00 and adjusted OR: 5.56, 95% CI: 1.05-33.33, respectively). Carrying ADRA2A −1291G allele was significantly associated with total IBS and diarrhea predominant IBS (adjusted OR: 3.37, 95% CI: 1.16-9.77 and adjusted OR: 5.64, 95% CI: 1.18-27.01, respectively). IBS-C patients showed reduced level of serum serotonin compared to controls and patients with diarrhea predominant IBS (50.2 ng/mL vs. 69.0 ng/mL and 92.9 ng/mL, P = 0.017 and P = 0.001, respectively).

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“…A Turkish study by Pata et al 9 reported an association of D-IBS with the l/s SERT-P genotype. In addition, the authors also described an 12 again found an association between the s/s SERT-P genotype and D-IBS. The results from these four recent genetic association studies are summarized in Fig.…”

Section: Sert Polymorphisms In Ibsmentioning

confidence: 81%

Serotonin transporter gene polymorphisms in irritable bowel syndrome

Geeraerts

Oudenhove

Tack

2006

Neurogastroenterology Motil

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Irritable bowel syndrome (IBS) is a symptomatic motility and sensory disorder of the lower gastrointestinal (GI) tract and is characterized by abdominal pain/ discomfort, bloating and altered bowel activity. It is usually classified according to the predominant bowel habit -IBS with constipation (C-IBS), IBS with diarrhoea (D-IBS) or IBS with alternating symptoms of both constipation and diarrhoea.1 Despite intensive research, the complicated and multifactorial pathophysiology underlying IBS is not completely understood. Recently, there is growing emphasis on identifying specific biological pathways that contribute to the complex pathophysiology of this disease. SERT AND SERT POLYMORPHISMSSerotonin [5-hydroxytryptamine (5-HT)], which is released from enterochromaffin cells and enteric neurons, is a key neurotransmitter modulating various GI functions, including secretion, motility and visceral perception (reviewed by Gershon, 2 ). To prevent excessive 5-HT signalling and 5-HT receptor desensitization, the actions of enteric 5-HT are terminated by reuptake through the serotonin transporter protein (SERT). 3The relevance of serotonin reuptake for the control of GI functions was confirmed by reports of disturbed GI motility in SERT knockout mice 4 (SERT-P, originally known as 5-HTTLPR). The latter consists of a 44 base pair deletion or insertion in the 5¢ flanking promoter region, resulting in a short (s) and a long (l) allele respectively. The functional impact of VNTR is not well known, but the SERT-P polymorphism seems to be functionally relevant as it modulates SERT gene transcription and, consequently, 5-HT reuptake and availability. One study showed that compared with the homozygous long (l/l) genotype, polymorphic heterozygous (l/ s) and homozygous short (s/s) SERT-P were associated with reduced function of the transporter protein in a lymphoblastoid cell line.8 Consistent with the effects of serotonin in the gut, SERT-P polymorphisms could potentially be involved in the development of IBS. This has mainly lead to the hypothesis that the s/s and l/s SERT-P genotypes are associated with prolonged serotonergic activity, which may lead to diarrhoea. SERT POLYMORPHISMS IN IBSTo investigate this hypothesis, several studies have tried to assess a relationship between IBS and SERT polymorphisms. A Turkish study by Pata et al. 9 reported an association of D-IBS with the l/s SERT-P genotype. In addition, the authors also described an

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Serotonin transporter gene polymorphism and irritable bowel syndrome

Cited by 79 publications

References 24 publications

Serotonin Transporter and G Protein Beta 3 Subunit Gene Polymorphisms in Greeks with Irritable Bowel Syndrome

Serotonin Transporter and G Protein Beta 3 Subunit Gene Polymorphisms in Greeks with Irritable Bowel Syndrome

Association Between SLC6A4 Serotonin Transporter Gene Lainked Polymorphic Region and ADRA2A −1291C>G and Irritable Bowel Syndrome in Korea

Serotonin transporter gene polymorphisms in irritable bowel syndrome

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