Faculty Collaboration Database

Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and White children with Crohn's disease. Inflamm Bowel Dis 2005 Jul;11(7):631-8

Date

06/24/2005

Pubmed ID

15973116

DOI

10.1097/01.mib.0000171279.05471.21

Scopus ID

2-s2.0-21844440348 (requires institutional sign-in at Scopus site)   70 Citations

Abstract

BACKGROUND: Despite a large body of literature on the subject of Crohn's disease (CD), very little information is available on racial/ethnic differences related to disease presentation, clinical course, and genetics. The first identified CD susceptibility gene, CARD15, seems to be present in up to 40% of white children with CD. However, the frequency of this gene among patients with CD of other racial/ethnic groups in the United States is not known.

METHODS: We conducted a multicenter study on African American and Hispanic children with CD to describe the phenotypic and genotypic (CARD15) features in comparison with white children with CD. We also analyzed the frequency of CARD15 mutations in large control samples from white, African American, and Hispanic children.

RESULTS: The disease location and behavior were similar among all 3 groups, with inflammatory behavior and the ileocolonic location being the most frequent phenotype. However, significantly lower frequencies of CARD15 mutations were seen in African American (P < 0.0001) and Hispanic (P < 0.0001) children with CD compared with white children with CD. This lower CARD15 frequency among African American patients with CD was also mirrored in the general population.

CONCLUSIONS: Phenotypic features of CD are similar among African American and Hispanic children compared with white children. CARD15 mutations are not increased among African American and Hispanic children with CD. CARD15 mutational frequencies among African American and Hispanic children within the general population are lower compared with white children within the general population. Future genetics studies will be required to determine the relationships between genotype and CD phenotype in various ethnic and racial groups.

Author List

Kugathasan S, Loizides A, Babusukumar U, McGuire E, Wang T, Hooper P, Nebel J, Kofman G, Noel R, Broeckel U, Tolia V

Authors

Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of Wisconsin
Tao Wang PhD Associate Professor in the Institute for Health and Equity department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Age of Onset
Case-Control Studies
Child
Child, Preschool
Crohn Disease
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Infant
Intracellular Signaling Peptides and Proteins
Male
Mutation
Nod2 Signaling Adaptor Protein
Polymorphism, Single Nucleotide
United States