Genetic Studies of Inflammatory Bowel Disease

2014-08-27 03:44:00 | BioPortfolio


This study will examine the existence of genetic regions that are believed to bring about a risk for inflammatory bowel disease (IBD), with its subtypes of Crohn's disease and ulcerative colitis. It will identify the locations of chromosomes responsible for hereditary IBD through linkage analysis, a technique in genetic research in which the occurrence of a disorder in a family is evaluated alongside a known genetic disorder. The project will also do fine mapping of genes and examine possible genes associated with IBD.

IBD is a chronic and often disabling disorder of the gastrointestinal tract, affecting about 500,000 Americans. Both Crohn's disease and ulcerative colitis share many characteristics, such as abdominal pain, bloody diarrhea, fever, fatigue, and malnutrition. But the main factors that distinguish these subtypes depend on the location and depth of inflammation. Tests and analyses can generally pinpoint some of the differences between the two, but sometimes there are major overlaps in characteristics, and the diagnosis is known as indeterminate IBD. The exact cause of IBD is not known, but genetic and environmental factors are known to contribute to risk for the disease. The single most important environmental risk factor has been smoking exposure at the time the diagnosis is made. Also, several genetic risk factors are ethnicity, family history, and polymorphisms-abilities to take on different forms-in the NOD2 gene.

Patients who have a diagnosis of IBD and their family members 5 years of age and older who have or do not have that diagnosis may be eligible for this study.

Participants will be asked to complete a questionnaire on their health, ethnic background, religion, habits, family medical history, and medications. Information will also be sought on the diagnosis, course, complications, and treatment of IBD, as well as risk factors. In addition, there will be collection of blood to be used for DNA preparation, storage of lymphocytes, and information on immunology.


Using epidemiological, statistical, and molecular genetic techniques, this proposal is designed to investigate the existence of genetic regions that are believed to confer a risk for inflammatory bowel disease (IBD), which consists of two subtypes, Crohn's disease (CD) and ulcerative colitis (UC). The project will derive its study population, consisting of IBD physician confirmed affected probands with their family members, from the Johns Hopkins University, the University of Chicago, and the University of Pittsburgh. The project will consist of multiple parts. The first part is a reanalysis of existing genome wide linkage data from IBD families with 377 genotyped microsatellite marker data that incorporates covariate data into the analysis, with the goal of identifying new and refining previously identified regions of linkage. Eventually this may be extended to include new families typed for genome wide scan markers. The second part of the project consists of the fine mapping of the IBD3 locus (HLA region on chromosome 6p), which has been shown to have evidence of linkage in UC patients. Fifty-two microsatellite markers spanning the affected child trios in an effort to identify potential marker alleles that may be associated with UC, using the IBD3 locus will be genotyped in a study population consisting of 240 UC father-mother-affected child trios in an effort to identify potential marker alleles that may be associated with UC, using the transmission disequilibrium test, and to identify potential haplotypes that may confer an increased risk of developing UC, using a likelihood-based approach where a moving window of adjacent markers will be tested for excessive transmission. Additional candidate genes within IBD3 will be examined, and polymorphisms will also be tested for potential significant associations. Eventually this second part may be extended to fine mapping and association analysis of other candidate genes and/or candidate regions.

Study Design



Inflammatory Bowel Disease


University of Chicago
United States




National Institutes of Health Clinical Center (CC)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:44:00-0400

Clinical Trials [1754 Associated Clinical Trials listed on BioPortfolio]

The Comparison Between the Biomarkers in Inflammatory Bowel Disease Patients and General Control Group

The aims of this study is to investigate a blood-based biomarker that can replace endoscopy in patients with inflammatory bowel disease. For this purpose, blood sample of patients wiht inf...

Collection of Specimens for Study of Inflammatory Bowel Disease

This study will collect tissue specimens to be used for research on inflammatory bowel disease. The tissues will be used to explore why people get inflammatory bowel disease and to try to ...

Phenotypic Characteristics of Inflammatory Bowel Disease in Southeast Asian Population - A Multi-Centered US Study

This is a retrospective, case control study of inflammatory bowel disease. This study will analyze the phenotypic characteristics of inflammatory bowel disease in the Southeast Asian popu...

Evolution of Lymphocyte Populations Under Biotherapy in Inflammatory Bowel Disease

This is a monocentric prospective study for the collection of biological samples (blood and biopsies) to be used for in vitro biomarker assay(s) performed to identify predictive markers of...

Von Willebrand Antigen and Activity as Novel Biomarkers of Hemostasis in Inflammatory Bowel Disease

The investigators are going to study von Willebrand antigen and activity levels in patients with inflammatory bowel disease. The study will be on 46 patients who were diagnosed with inflam...

PubMed Articles [19440 Associated PubMed Articles listed on BioPortfolio]

Pulmonary Manifestations of Inflammatory Bowel Disease.

Pulmonary manifestations of inflammatory bowel disease are increasingly recognized in patients with ulcerative colitis and Crohn's disease. Most commonly, incidental abnormalities are noted on chest i...

Fecal Calprotectin as a Screening Marker for Inflammatory Bowel Disease.

We compared fecal calprotectin and endoscopic findings of 53 children with possible inflammatory bowel disease and found an optimal cut-off of 68 µg/g in Receiver operative curve [AUC 0.88 (95% CI 0....

Antibiotic Use in Childhood and Adolescence and Risk of Inflammatory Bowel Disease: A Case-Control Study in the UK Clinical Practice Research Datalink.

Inflammatory bowel disease (IBD) causes serious morbidity and disability, and the incidence is increasing. The disease etiology is not well understood, though inflammatory reactions after antibiotic e...

Arthritis as clinical presentation of inflammatory bowel disease in children.

Inflammatory bowel disease in children has increased worldwide during the last decades. Clinical presentations are diverse and extraintestinal manifestations are the presenting sign in 6-35 % of patie...

Disease-Associated Costs in Children With Inflammatory Bowel Disease: A Systematic Review.

As a chronic noncurable disorder often diagnosed in childhood or adolescence, inflammatory bowel disease (IBD) confers a significant financial lifetime burden. The objective of this systematic review ...

Medical and Biotech [MESH] Definitions

An anti-inflammatory agent, structurally related to the SALICYLATES, which is active in INFLAMMATORY BOWEL DISEASE. It is considered to be the active moiety of SULPHASALAZINE. (From Martindale, The Extra Pharmacopoeia, 30th ed)

A species of Faecalbacterium, previously classified in the FUSOBACTERIUM genus, that is a major constituent of the GUT MICROBIOTA in healthy humans. It has anti-inflammatory activity and reduced numbers of this species occur in patients with INFLAMMATORY BOWEL DISEASES such as CROHN DISEASE.

Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.

A member of the S-100 protein family that is present at high levels in the blood and interstitial fluid in several infectious, inflammatory, and malignant disorders, including rheumatoid arthritis, inflammatory bowel disease, and cystic fibrosis. It is a complex of a light chain (CALGRANULIN A) and a heavy chain (CALGRANULIN B). L1 binds calcium through an EF-hand motif, and has been shown to possess antimicrobial activity.

A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup.

More From BioPortfolio on "Genetic Studies of Inflammatory Bowel Disease"

Quick Search

Relevant Topics

Astroesophageal Reflux Disease (GERD) Barrett's Esophagus Celiac Disease Cholesterol Crohn's Disease Gastroenterology Hepatitis Hepatology Irritable Bowel Syndrome (IBS) Pancreatitis Peptic Ulcer Disease...

Crohn's Disease (CD)
Crohn’s disease (CD) is a long-term condition that causes inflammation of the lining of the digestive system.  Inflammation can affect any part of the digestive system, from the mouth to the back passage, but most commonly occurs in the last s...

Searches Linking to this Trial