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Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and White children with
Subra Kugathasan1, Anthony Loizides, Umesh Babusukumar
1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. skuga@mcw.edu
Insights
Crohn's disease (CD) presentation is similar across racial groups, but CARD15 gene mutations are less common in African American and Hispanic children with CD compared to white children.
Area of Science:
- Genetics
- Gastroenterology
- Pediatrics
Background:
- Limited data exists on racial/ethnic variations in Crohn's disease (CD) presentation, clinical course, and genetics.
- The CD susceptibility gene CARD15 is prevalent in white children but its frequency in other US racial/ethnic groups is unknown.
Purpose of the Study:
- To investigate racial/ethnic differences in Crohn's disease (CD) presentation and CARD15 gene mutations among children.
- Compare phenotypic and genotypic features of CD in African American and Hispanic children versus white children.
Main Methods:
- Multicenter study involving African American, Hispanic, and white children diagnosed with Crohn's disease (CD).
- Phenotypic assessment of disease location and behavior.
- Genotypic analysis for CARD15 mutations in patients and control populations.
Main Results:
- Disease location and behavior were consistent across all three racial/ethnic groups.
- Significantly lower frequencies of CARD15 mutations were observed in African American and Hispanic children with CD compared to white children (P < 0.0001).
- Lower CARD15 mutation frequencies in African American patients with CD were also noted in the general population.
Conclusions:
- Crohn's disease (CD) presents similarly across African American, Hispanic, and white children.
- CARD15 mutations are not more frequent in African American and Hispanic children with CD.
- Lower CARD15 gene frequencies exist in the general African American and Hispanic populations compared to white populations, necessitating further genetic research.
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.
