• explanations
• explanatory models
• irritable bowel syndrome
• mechanisms

Despite 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.

Study 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.

Regarding 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).

Genetic polymorphisms of SLC6A4 5-HTTLPR and ADRA2A −1291C>G could be one of the pathophysiological factors of IBS in Korea. Reduced serum serotonin shown in the IBS-C group suggested a role of serotonin in IBS, but large study is needed for confirming genotypic difference in serum serotonin level.

• Irritable bowel syndrome, Polymorphism, genetic, Receptors, adrenergic, Polymorphism, single nucleotide, Serotonin

AIM: To clarify the associations between G-protein beta polypeptide 3 (GNB3) C825T polymorphism and risk of the irritable bowel syndrome (IBS) by a meta-analysis.

METHODS: We searched relevant studies in PubMed, EMBASE, CNKI, Google Scholar, Ovid and Cochrane library prior to October 2013. The strengths of the associations between GNB3 C825T polymorphism and IBS risk were estimated by odds ratios (ORs) with 95% confidence interval (CIs).

RESULTS: We identified seven case-control studies with 1085 IBS cases and 1695 controls for the analysis. We found no significantly associations of GNB3 C825T polymorphism with IBS risk in the overall population (CC vs TT, OR = 1.12, 95%CI: 0.86-1.45; CC + CT vs TT, OR = 1.17, 95%CI: 0.92-1.49; TT + CT vs CC, OR = 0.93, 95%CI: 0.80-1.08; C vs T, OR = 1.08, 95%CI: 0.97-1.21). Subgroup analysis did not reveal significant associations either in Asian population or Caucasian population. The pooled results of four studies fail to show associations of GNB3 C825T polymorphism with subtypes of IBS (constipation-dominant type, diarrhea-dominant type and mixed type).

CONCLUSION: The present study suggests no associations of GNB3 C825T polymorphism with IBS risk.

• Irritable bowel syndrome
• G-protein beta polypeptide 3
• Polymorphisms
• Meta-analysis

• Alleles
• Asian People/genetics
• Genetic Predisposition to Disease
• Genotype
• Heterotrimeric GTP-Binding Proteins/genetics
• Humans
• Irritable Bowel Syndrome/genetics
• Odds Ratio
• Polymorphism, Genetic
• Risk Factors
• White People/genetics