Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and white children with Crohn's disease

被引:63
作者
Kugathasan, S
Loizides, A
Babusukumar, U
McGuire, E
Wang, T
Hooper, P
Nebel, J
Kofman, G
Noel, R
Broeckel, U
Tolia, V
机构
[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
[2] Childrens Hosp Montefiore, Albert Einstein Sch Med, Bronx, NY USA
[3] Med Coll Wisconsin, Div Biostat, Milwaukee, WI 53226 USA
[4] Louisiana Off Publ Hlth, Biochem Genet Lab, New Orleans, LA USA
[5] Med Coll Wisconsin, Dept Med, Milwaukee, WI 53226 USA
[6] Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USA
[7] Wayne State Univ, Sch Med, Childrens Hosp Michigan, Detroit, MI USA
关键词
African American; CARD; 15; children; Crohn's disease; genetics; Hispanic;
D O I
10.1097/01.MIB.0000171279.05471.21
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
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 (CARD 15) 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 CARD 15 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.
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页码:631 / 638
页数:8
相关论文
共 40 条
[1]   Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease [J].
Abreu, MT ;
Taylor, KD ;
Lin, YC ;
Hang, T ;
Gaiennie, J ;
Landers, CJ ;
Vasiliauskas, EA ;
Kam, LY ;
Rojany, M ;
Papadakis, KA ;
Rotter, JI ;
Targan, SR ;
Yang, HY .
GASTROENTEROLOGY, 2002, 123 (03) :679-688
[2]   The molecular classification of the clinical manifestations of Crohn's disease [J].
Ahmad, T ;
Armuzzi, A ;
Bunce, M ;
Mulcahy-Hawes, K ;
Marshall, SE ;
Orchard, TR ;
Crawshaw, J ;
Large, O ;
De Silva, A ;
Cook, JT ;
Barnardo, M ;
Cullen, S ;
Welsh, KI ;
Jewell, DP .
GASTROENTEROLOGY, 2002, 122 (04) :854-866
[3]   Basic epidemiology of inflammatory bowel disease in Puerto Rico [J].
Appleyard, CB ;
Hernández, G ;
Ríos-Bedoya, CF .
INFLAMMATORY BOWEL DISEASES, 2004, 10 (02) :106-111
[4]  
Bonen DK, 2002, GASTROENTEROLOGY, V122, pA29
[5]   EPIDEMIOLOGY OF INFLAMMATORY BOWEL-DISEASE [J].
CALKINS, BM ;
MENDELOFF, AI .
EPIDEMIOLOGIC REVIEWS, 1986, 8 :60-91
[6]  
Chaisomchit Sumonta, 2003, Southeast Asian Journal of Tropical Medicine and Public Health, V34, P641
[7]   Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations [J].
Croucher, PJP ;
Mascheretti, S ;
Hampe, J ;
Huse, K ;
Frenzel, H ;
Stoll, M ;
Lu, T ;
Nikolaus, S ;
Yang, SK ;
Krawczak, M ;
Kim, WH ;
Schreiber, S .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (01) :6-16
[8]   The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease [J].
Cuthbert, AP ;
Fisher, SA ;
Mirza, MM ;
King, K ;
Hampe, J ;
Croucher, PJP ;
Mascheretti, S ;
Sanderson, J ;
Forbes, A ;
Mansfield, J ;
Schreiber, S ;
Lewis, CM ;
Mathew, CG .
GASTROENTEROLOGY, 2002, 122 (04) :867-874
[9]  
de la Cal JAL, 1999, REV ESP ENFERM DIG, V91, P282
[10]   Inflammatory bowel disease: Etiology and pathogenesis [J].
Fiocchi, C .
GASTROENTEROLOGY, 1998, 115 (01) :182-205