Article
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
European journal of human genetics : EJHG - 1 Mar 2004
Giachino Daniela, van Duist Marjan Maria, Regazzoni Silvia, Gregori Dario, Bardessono Marco, Salacone Paola, Scaglione Nadia, Sostegni Raffaello, Sapone Nicoletta, Bresso Francesca, Sambataro Angela, Gaia Ezio, Pera Angelo, Astegiano Marco, De Marchi M
Abstract excerpt
CARD15 on chromosome 16 is the only IBD susceptibility gene identified among several mapped loci. Its recurrent variants R702W, G908R and L1007fs have shown significant association with Crohn's disease (CD), but not with ulcerative colitis (UC), in different Caucasian populations. We analysed these three variants in 184 CD and 92 UC Italian patients and in 177 healthy controls. L1007fs and G908R were...
Topics
- Carrier Proteins
- Colitis, Ulcerative
- Crohn Disease
- DNA Mutational Analysis
- Frameshift Mutation
- Gene Frequency
- Genetic Variation
- Heterozygote
- Homozygote
- Humans