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

Markoutsaki, Theofano; Karantanos, Theodoros; Gazouli, Maria; Anagnou, Nicholas P.; Ladas, Spiros D.; Karamanolis, D.G.

doi:10.1007/s10620-011-1726-7

Cited by 19 publications

(12 citation statements)

References 25 publications

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“…9,12,41,42 Only one Greek study showed significant association between T homozygotes (or T allele) and IBS. 43 In the present study, we could not find any significant association between this SNP and IBS, either. To our knowledge, as for the association between CCK1R intron 779T>C and IBS, only one study has been published.…”

Section: Discussioncontrasting

confidence: 77%

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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Section: Discussioncontrasting

confidence: 77%

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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“…However, several additional studies found different results in other populations. A 2011 study in a Greek population found the GNβ3 -825T allele encoding a G protein that mediates enhances activation [11] to be closely associated with the occurrence of IBS [13]. A 2001 study conducted in a Caucasian population found that GNβ3 -825C was associated with increased defecation frequency [25], and Korean studies in 2010 and 2012 found GNβ3 -825T to be associated with IBS with constipation in adults [14] and children [16], and GNβ3 -825C to be associated with IBS with diarrhea in children [16].…”

Section: Discussionmentioning

confidence: 99%

“…For example, both Kim [12] and Saito [15] subdivided small populations (60 and 50 IBS patients, respectively) into CC, CT, and TT genotype subgroups, resulting in a smaller size in each group. The studies that found association between GNβ3 -C825T and IBS were conducted in ethnic Koreans [14] and Greeks [13]. Fang et al performed a correlation study between the GNβ3 C825T polymorphism and functional dyspepsia (FD) in a Han Chinese population, and found that this polymorphism is not a risk factor for the onset of FD [3].…”

Section: Discussionmentioning

confidence: 99%

A genetic association study of single nucleotide polymorphisms in GNβ3 and COMT in elderly patients with irritable bowel syndrome

Wang

Qiao

et al. 2014

Med Sci Monit

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BackgroundSeveral polymorphisms have been reported to be associated with irritable bowel syndrome (IBS), including C825T, the single nucleotide polymorphism (SNP), responsible for a truncated G protein β3 subunit (GNβ3), and the Vall158Met substitution in catechol-O-methyltransferase (COMT). We investigated the association between these mutations and the prevalence of IBS in 66 elderly Chinese patients.Material/MethodsSixty-six patients (over age 60 years) were diagnosed with IBS according to the Rome III criteria, and divided into 3 groups based on symptom presentation. The groups consisted of 7 patients with constipation, 46 patients with diarrhea, and 13 patients with both or neither symptoms. We enrolled 115 age-matched individuals without IBS as the control group. All patients were evaluated by using the Geriatric Depression Scale, disease progression was recorded, and GNβ3 and COMT were genotyped by PCR.ResultsThere was no significant difference in GNβ3 C825T genotype distribution and allele frequency between the 2 groups. In contrast, compared with control subjects, COMT 158Met was significantly more prevalent in the IBS group (P=0.040) and significantly more prevalent in patients with diarrhea (P=0.029). 158Met was also more prevalent in those patients who had experienced symptoms for over 5 years (P=0.022).ConclusionsIn elderly Chinese patients, the 158Met SNP in COMT is associated with IBS pathogenesis, but the GNβ3-C825T SNP is not associated with IBS pathogenesis.

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“…By contrast, Lee et al [87] showed that the T allele was associated with CIBS (Koreans; 12 CIBS, 51 DIBS, 31 MIBS; Rome III). Subsequently, T/T genotype and overall T allele frequencies of 825C>T were found to be associated with IBS in 124 Greek patients (Rome III) [88]. In the study by Kim et al [84], there was no association of 825C>T with susceptibility to IBS.…”

Section: G Proteinmentioning

confidence: 96%

“…rs5443 825C>T FD Association [13,45,79,80] FD Association (Hp-) [81] FD Association (EPS) [82] FD Association (PDS) [83] FD No association [84] IBS No association [51,74,[84][85][86] IBS Association (C-IBS) [80,87] IBS Association [88] IBS Association (D-IBS) [80] IBS Association (GI infection +) [89] Polymorphisms are reported as quoted in the original papers. When applicable, current designations, as reported in the NCBI SNP database Genetics & pharmacogenetics of aminergic transmitter pathways in functional gastrointestinal disorders Review intestinal fluid/electrolyte secretion, gastric and colonic tone and colorectal motility and sensation [90].…”

Section: Gnb3mentioning

confidence: 99%

Genetics and Pharmacogenetics of Aminergic Transmitter Pathways in Functional Gastrointestinal Disorders

et al. 2015

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Functional gastrointestinal disorders (FGIDs) are highly prevalent syndromes, without evident underlying organic causes. Their pathogenesis is multifactorial in nature, with a combination of environmental and genetic factors contributing to their clinical manifestations, for which most of current treatments are not satisfactory. It is acknowledged that amine mediators (noradrenaline, dopamine and serotonin) play pivotal regulatory actions on gut functions and visceral sensation. In addition, drugs of therapeutic interest for FGIDs act on these transmitter pathways. The present article reviews current knowledge on the impact of genetics and pharmacogenetics of aminergic pathways on FGID pathophysiology, clinical presentations, symptom severity and medical management, in an attempt of highlighting the most relevant evidence and point out issues that should be addressed in future investigations.

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

Abstract: The results suggest that SERT and GNB3 gene polymorphisms might be associated with irritable bowel syndrome predisposition in Greeks.

Cited by 19 publications

References 25 publications

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

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

A genetic association study of single nucleotide polymorphisms in GNβ3 and COMT in elderly patients with irritable bowel syndrome

Genetics and Pharmacogenetics of Aminergic Transmitter Pathways in Functional Gastrointestinal Disorders

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