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Analysis of genetic aspects in Functional Gastrointestinal Disorders - Functional Constipation

Grant number: 12/01467-7
Support Opportunities:Scholarships in Brazil - Post-Doctorate
Effective date (Start): May 01, 2012
Effective date (End): April 30, 2014
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Ricardo Brandt de Oliveira
Grantee:Gustavo Henrique Vieira
Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
Associated research grant:10/07639-9 - Gastrointestinal motility: clinical investigations, physiopathology and biopharmaceutical, AP.TEM


Functional Gastrointestinal Disease (FGID) is part of a complex set of syndromes characterized by persistent pain and discomfort in the visceral system. Among these conditions, there are more frequent dyspepsia, irritable bowel syndrome, the Gastroesofageal reflux and chronic constipation. The ROMA Questionary is used by the diagnosis, and through the anatomical characteristics and age of onset of symptoms the patient categorizes the 28 subclasses. Among the FGID, the Functional Constipation (FC) is one of the most common digestive disorders, with a prevalence ranging around 20% of the population. It affects children and adults, and these latter is more common in women. Some studies, it showed prevalence among the elderly, blacks, people of lower educational level and lower purchasing power. Although the condition is not grave prognosis, the fact that so affect a large contingent of the population requires intensive use of the health system, mobilizing considerable resources and medical staff in diagnosis and monitoring. Because it is the environment of complex diseases is an important factor in the study of these syndromes, so a greater sensitivity to daily stress can lead an individual to have symptoms with varying severity. Thus, the search for genetic markers that show this bias become important as they may lead to early diagnosis and therapy. Single nucleotide polymorphisms (SNPs) have been related to biological intermediate phenotypes such as colonic transit, increased perception of visceral stimuli or altered brain responses. However, studies with large numbers of individuals are scarce, complicating the extrapolation of results. To date, no biological markers have been described that allow the determination of a predisposition of an individual to FGID. Seeking to better understand the mechanisms that lead to functional constipation in the future and that may collaborate with their diagnosis, prevention and effective therapy, the primary goals of this project are: 1 - Perform genotyping polymorphisms (SNPs) present in the candidate genes so far associated to different classes of patients with FGID, in patients with the phenotype of FC; Perform 2- sequencing of candidate genes so far associated with different classes of patients with FGID, looking for new polymorphic regions that may be associated with the FC and the FGID 3 - Perform epigenetic study by analyzing the promoter region of genes so far associated with different classes of patients with FGID 4 - Conduct the Study of the intestinal flora of patients with FGID through metagenomics analysis. For this, we will evaluate 70 adult patients who were diagnosed with CIF defined by the ROMA III criteria. These patients will come from the Gastroenterology Clinic of the Hospital of the Botucatu Campus, UNESP. Techniques will be used for Real-Time PCR for genotyping polymorphisms and DNA sequencing to search for new polymorphisms in six pre-selected genes (SLC6A4, HT3E, CDH1, TLR9, IL6, IL10) and epigenetic analysis metagenomics studies. The results will be analyzed with statistical tool that best suits the situation.

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