Scientific Abstract

Proposal No.   IBD-0044
Principal Investigator:  Herbert J. Van Kruiningen, DVM, Ph.D., M.D.
Applicant Organization:  The University of Connecticut (Storrs, U.S.A.)
Project Title: Epidemiology of Familial Crohn's Disease
Period of Award:  December 1, 2002 – March 31, 2006

Families with multiple cases of Crohn’s disease occur with inordinate frequency in the north of France and the northern half of Belgium.  Recognizing that these families represent an extraordinary opportunity to study both genetic and environmental factors in Crohn’s disease, in the summer of 2000, we initiated an extensive study to obtain information and specimens from affected and unaffected family members.  Twenty-two multiplex families were studied, as were six matched control families without Crohn's disease and four families with single cases.

Fifteen additional control and seventeen additional simplex families are needed.  Matched control families will be recruited as previously and additional simplex families will be identified through local gastroenterologists.  A 176-point questionnaire will be administered to affected and unaffected family members in a round-the-table format, in their homes.  Because of the relatively immobile population in this region, many affected individuals are still living in the homes where they first developed symptoms of Crohn's disease.  The questionnaire addresses childhood diseases, food items, potable water supply, social activities, travel, pets, first symptoms, home and surrounding environment.  Subsequent to the interview, mouth cultures, blood and stool will be collected for yeast culture, genetic linkage, pANCA, ASCA and calprotectin analyses.  Once the control responses have been obtained, all data will be analyzed in a case-control comparison.  PCR and RT-PCR will be employed to seek several classes of viruses that may target the intestine and that are known to result in persistent or recurrent infection.  These studies will be done on frozen sections from surgical resections from patients, familial and non-familial, from the same patient base.

This project takes a unique and innovative approach to investigating the etiology of Crohn’s disease seeking environmental factors in an unusual geographic cluster of Crohn’s disease.