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Frequency of CARD15 polymorphisms in patients with Crohn's disease from Toledo, Spain: genotype-phenotype correlation

Carles De Diego1, Mariano Alcántara, Julio Valle

  • 1Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain. cadedi@sescam.jccm.es

Genetic Testing
|October 6, 2006
PubMed

Insights

Genetic variations in CARD15 influence Crohn's disease (CD) risk. Specific CARD15 polymorphisms (R702W, G908R, 1007fs) were more frequent in Spanish CD patients, with R702W linked to early onset and stricturing disease.

Area of Science:

  • Genetics
  • Gastroenterology
  • Molecular Biology

Background:

  • Crohn's disease (CD) is a complex inflammatory bowel disease with genetic and environmental influences.
  • Three CARD15 gene polymorphisms (R702W, G908R, 1007fs) are known risk factors for CD.

Purpose of the Study:

  • To investigate the frequencies of CARD15 R702W, G908R, and 1007fs polymorphisms in a Spanish population.
  • To explore genotype-phenotype associations between CARD15 variants and CD characteristics.

Main Methods:

  • Genotyping of 183 CD patients and 172 healthy controls from Toledo, Spain.
  • Analysis of allele frequencies for R702W, G908R, and 1007fs CARD15 polymorphisms.
  • Statistical analysis to identify genotype-phenotype correlations.

Main Results:

  • CARD15 polymorphism frequencies in controls aligned with previous studies.
  • Elevated allele frequencies for R702W (7.6%), G908R (3.0%), and 1007fs (4.6%) were observed in CD patients compared to controls.
  • Significant association found between R702W and early onset/stricturing CD phenotypes, particularly with two susceptibility variants.

Conclusions:

  • CARD15 polymorphisms are more prevalent in Spanish CD patients.
  • The R702W polymorphism is associated with specific clinical manifestations of Crohn's disease, including early onset and disease stricture.

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