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Markoutsaki T.,Evangelismos General Hospital | Karantanos T.,National and Kapodistrian University of Athens | Gazouli M.,National and Kapodistrian University of Athens | Anagnou N.P.,National and Kapodistrian University of Athens | And 3 more authors.
Digestive Diseases and Sciences | Year: 2011

Background: Polymorphisms in the serotonin transporter (SERT) and G protein β3 subunit (GNB3) genes might contribute to the pathophysiology of irritable bowel syndrome (IBS). Association studies of SERT and GNB3 polymorphisms and IBS have shown diverse results among different populations, which might be due to subject composition differences. Aims: The aim of the study was to assess the potential association between SERT and GNB3 polymorphisms and IBS in Greeks. Methods: A total of 124 patients with IBS diagnosed according to the Rome III criteria and 238 healthy individuals were included in the study. SERT and GNB3 gene polymorphisms were genotyped using polymerase chain reaction-based methods. Results: It was shown that the frequencies of the SS genotype and S allele of the serotonin transporter polymorphism were significantly associated with IBS (P = 0.0314 and P = 0.019, respectively). TT genotype and T allele frequencies of G protein β3 subunit showed also significant difference between the IBS patients and healthy controls IBS (P = 0.0163 and P = 0.0001, respectively). None of the clinical symptoms analyzed was significantly associated with the polymorphisms tested. Conclusions: The results suggest that SERT and GNB3 gene polymorphisms might be associated with irritable bowel syndrome predisposition in Greeks. © 2011 Springer Science+Business Media, LLC. Source


Gazouli M.,National and Kapodistrian University of Athens | Pachoula I.,National and Kapodistrian University of Athens | Panayotou I.,National and Kapodistrian University of Athens | Mantzaris G.,Evagelismos Hospital | And 6 more authors.
Journal of Clinical Pharmacy and Therapeutics | Year: 2010

Background and objective: Azathioprine (AZA) and 6-mercaptopurine (6MP) are used in the treatment of paediatric inflammatory bowel disease (IBD). Genetic variations in thiopurine S-methyltranfarase (TPMT) gene have been correlated with enzyme activity and with the occurrence of adverse events to AZA and 6MP. The aim of the present study was to investigate the frequency of the functional TPMT polymorphisms and their association with the occurrence of adverse events during azathioprine therapy in a paediatric IBD cohort. Methods: Ninety-seven thiopurine-treated paediatric IBD patients (41·24% boys and 58·76% girls) with a mean age 11·25 years (range 3-16), were assessed for TPMT polymorphisms and adverse events. Results: Of the 97 patients enrolled in the study, 18 (18·56%) were heterozygous mutated; two (2·06%) were homozygous for a mutated TPMT gene. Ten patients (10·31%) developed adverse effects, and four of them (40%) had one of the variant alleles. Conclusions: In this small cohort of subjects, no association was found between TPMT polymorphisms and the occurrence of thiopurines-related adverse events. © 2009 Blackwell Publishing Ltd. Source


Markoutsaki T.,Evangelismos General Hospital | Karantanos T.,National and Kapodistrian University of Athens | Gazouli M.,National and Kapodistrian University of Athens | Anagnou N.P.,National and Kapodistrian University of Athens | And 2 more authors.
Journal of Clinical Gastroenterology | Year: 2011

GOALS: The aim of the study was to investigate the potential association between single nucleotide polymorphisms of the 5-HT2A receptor gene and susceptibility to irritable bowel syndrome (IBS) in the Greek population. BACKGROUND: Serotonin [5-hydroxytryptamine (5-HT)] is the main mediator involved in the pathophysiology of IBS. Thus, genes implicated in 5-HT metabolism are good candidates for susceptibility to IBS. Two single nucleotide polymorphisms -1438 (G/A) and 102 (C/T) in the 5-HT2A receptor gene have been associated with the pathophysiology of IBS. STUDY: One hundred twenty-four patients with IBS diagnosed according to the Rome III criteria and 238 healthy individuals were included in the study. The -1438 (G/A) and 102 (C/T) in the 5-HT2A receptor gene polymorphisms have been studied using the polymerase chain reaction based restriction fragment length polymorphism method. RESULTS: A genotype association was found between A allele and AA genotype of the -1438 (G/A) polymorphism and IBS (P=0.0037 and P=0.0064, respectively). Concerning the 102 (C/T) polymorphism, no significant association was found. CONCLUSIONS: This study suggests that the carriers of A allele of the -1438 (G/A) polymorphism of the 5-HT2A receptor gene have a high risk of IBS. © 2011 Lippincott Williams & Wilkins, Inc. Source


Gazouli M.,National and Kapodistrian University of Athens | Gazouli M.,Foundation for Biomedical Research of the Academy of Athens IIBEAA | Pachoula I.,National and Kapodistrian University of Athens | Panayotou I.,National and Kapodistrian University of Athens | And 5 more authors.
World Journal of Gastroenterology | Year: 2010

AIM: To assess whether the polymorphisms of NOD2/ CARD15, autophagy-related 16-like 1 (ATG16L1), and interleukin-23 receptor (IL23R) genes play a more critical role in the susceptibility of childhood-onset than in adult-onset Crohn's disease (CD). METHODS: Polymorphisms R702W, G908R, and 3020insC of NOD2/CARD15; rs2241880 A/G of ATG16L1, and rs11209026 (R381Q) of IL23R gene were assessed in 110 childhood-onset CD, 364 adult-onset CD, and 539 healthy individuals. Analysis of polymorphisms R702W, G908R, and 3020insC of NOD2/CARD15 genotyping was performed by allele specific polymerase chain reaction (PCR) or by PCR-restriction fragment length polymorphism analysis. The polymorphisms rs2241880 A/G of the ATG16L1, and rs11209026 (R381Q) of the IL23R gene in the children's cohort were genotyped by PCR and melting curve analysis whereas adult group genotyping was performed using the Affymetrix Genome-Wide Human SNP Array 5.0 (500K). RESULTS: The 3020insC allele in NOD2/CARD15 was significantly higher in childhood than in adult-onset CD (P = 0.0067). Association with at least 1 NOD2/CARD15 variant was specific for ileal disease (with or without colonic involvement). Even if the frequency of G allele of the rs2241880 ATG16L1 polymorphism was increased in both paediatric and adult CD patients compared to controls (P = 0.017 and P = 0.001, respectively), no difference was observed between the childhood and the adult cohort. The rare Q allele of IL23R rs11209026 polymorphism was underrepresented in both paediatric and adult CD cases (P = 0.0018 and P = 0.04, respectively) and no difference was observed between the childhood and the adult cohort. The presence of the rs2241880 ATG16L1 and rs11209026 IL23R polymorphisms did not influence disease phenotype. CONCLUSION: Polymorphism 3020insC in NOD2/ CARD15 occurs statistically significantly more often in patients with childhood-onset CD than in patients with adult-onset CD. The ATG16L1 and IL23R variants are associated with susceptibility to CD, but not early-onset disease. © 2010 Baishideng. Source

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