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CARD4/NOD1 does not predispose to IBD, according to the results of an association study of European families.
The researchers used 63 index patients with IBD to screen for CARD4 gene mutations. They chose just one mutation—E266K—which was both frequent enough for an association study and encoded a change in an aminoacid residue (G→A) known to be conserved in the homologous CARD15 gene which confers susceptibility to CD. They genotyped 381 families with IBD from various European countries for the E266K mutation. Some families had several members affected with CD or UC or with CD, UC, and indeterminate colitis (IC).
The E and K alleles were in Hardy-Weinberg equilibrium. The frequency of the K allele was very similar in families with just CD or UC and identical in sporadic and familial cases, permitting genotype-phenotype analysis on pooled results from families with multiple or single affected members. No increased transmission of the K or E alleles was evident on transmission disequilibrium test analysis according to IBD, CD, UC phenotype for all 381 families nor for families with pure CD or UC phenotype only.
CARD4 is similar to CARD15/NOD2, which itself confers susceptibility to CD. The protein products of the two genes are very similar in composition; both activate the κB pathway and cell death in response to bacterial lipopolysaccharide. CARD4 also maps to a region shown to confer susceptibility to IBD in British patients—all in all, sufficient to warrant investigation.