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Amado S Peña ;Acta Gastroenterológica Latinoamericana 2007, 37 1

Autor: Manuel Barreiro-de Acosta



Acta Gastroenterológica Latinoamericana ISSN: 0300-9033 Sociedad Argentina de Gastroenterología Argentina Barreiro-de Acosta, Manuel; Peña, Amado S Clinical applications of NOD2-CARD15 mutations in Crohn´s disease Acta Gastroenterológica Latinoamericana, vol.
37, núm.
1, marzo, 2007, pp.
49-54 Sociedad Argentina de Gastroenterología Buenos Aires, Argentina Available in: How to cite Complete issue More information about this article Journals homepage in Scientific Information System Network of Scientific Journals from Latin America, the Caribbean, Spain and Portugal Non-profit academic project, developed under the open access initiative ACTA GASTROENTEROL LATINOAM - MARZO 2007;VOL 37:Nº 1 Clinical applications of NOD2-CARD15 mutations in Crohn’s disease. Manuel Barreiro-de Acosta,1 Amado S Peña 2-3 Acta Gastroenterol Latinoam 2007;37:49-54 Summary The recent identification of the CARD15-NOD2 gene as a susceptibility locus for Crohn’s disease represents an important step in the immunopathogenesis of inflammatory bowel disease.
The gene explains about 20% of the genetic susceptibility.
CARD15 mutations are present in 30-50% of CD patients compared to 7-20% of healthy controls.
The three risk alleles R702W, G908R and 1007fsInsC in NOD2 associated with susceptibility to Crohn’s disease have demonstrated a remarkable amount of heterogeneity across ethnicities and populations, with regional variation across Europe.
In nonCaucasian populations Crohn’s disease continues to increase in incidence but this increase appears not to be a consequence of variation in NOD2.
Genotype-phenotype analyses demonstrated an association of these mutations with ileum-specific disease and an increased incidence of the fibrostenotic phenotype.
Although CARD15 variants do not predict response to the TNF alpha monoclonal antibodies, there are no data available on the possible influence of ...

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