Literature DB >> 19826411

NOD2 mutations and anti-Saccharomyces cerevisiae antibodies are risk factors for Crohn's disease in African Americans.

Themistocles Dassopoulos1, Geoffrey C Nguyen, Monica Vladut Talor, Lisa Wu Datta, Kim L Isaacs, James D Lewis, Michael S Gold, John F Valentine, Duane T Smoot, Mary L Harris, Maria Oliva-Hemker, Theodore M Bayless, C Lynne Burek, Steven R Brant.   

Abstract

OBJECTIVES: NOD2 mutations and anti-Saccharomyces cerevisiae antibodies (ASCAs) are established risk factors of Crohn's disease (CD) in whites but have not been assessed in African-American (AA) adults with CD.
METHODS: AAs with CD and controls were recruited by the Mid-Atlantic African-American IBD Study as part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD Genetics Consortium. Genotyping for the three common CD NOD2 mutations (Leu1007fsinsC, G908R/2722g>c, and R702W/2104c>t) and ASCA enzyme-linked immunosorbent assays were performed in 183 AA CD patients and in 143 controls. Logistic regression was used to calculate adjusted odds ratios (ORs) for the association between ASCA and disease phenotype.
RESULTS: ASCA sensitivity and specificity values were 70.5 and 70.4%, respectively. On univariate analysis, ASCA was significantly associated with younger age at diagnosis, ileal involvement, and complicated (stricturing/penetrating) behavior. On multivariate analysis, ASCA titer (per 25 Units) was associated with ileal involvement (OR 1.18, 95% confidence interval (CI): 1.04-1.34), complicated behavior (OR 1.13, 95% CI: 1.01-1.28), and surgery (hazard ratio: 1.11, 95% CI: 1.02-1.21). Cigarette smoking and CD family history were also significantly associated with surgery. NOD2 carriers (all heterozygotes) were more common among CD cases than controls (8.2 vs. 2.1%; OR 4.17%, 95% CI: 1.18-14.69). The NOD2 mutation population attributable risk was 6.2%.
CONCLUSIONS: In comparison with whites, ASCA in AAs has a similar sensitivity but a lower specificity for CD. ASCA is associated with ileal involvement, complicated behavior, and surgery in AAs with CD. NOD2 is a risk gene for AA CD, although mutation frequency and population attributable risk are much lower than in whites.

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Year:  2009        PMID: 19826411      PMCID: PMC3339041          DOI: 10.1038/ajg.2009.575

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN: 0002-9270            Impact factor:   10.864


  48 in total

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3.  Defining complex contributions of NOD2/CARD15 gene mutations, age at onset, and tobacco use on Crohn's disease phenotypes.

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4.  Anti-Saccharomyces cerevisiae antibody (ASCA) positivity is associated with increased risk for early surgery in Crohn's disease.

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5.  Anti-Saccharomyces cerevisiae antibodies (ASCA) in Crohn's disease are associated with disease severity but not NOD2/CARD15 mutations.

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7.  Optimising the diagnostic value of anti-Saccharomyces cerevisiae-antibodies (ASCA) in Crohn's disease.

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10.  Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease.

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6.  Contribution of higher risk genes and European admixture to Crohn's disease in African Americans.

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7.  Antimicrobial peptides in gastrointestinal inflammation.

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8.  Race and inflammatory bowel disease in an urban healthcare system.

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Review 9.  Beyond gene discovery in inflammatory bowel disease: the emerging role of epigenetics.

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