@entity6820 / @entity6820 encodes a protein involved in bacterial recognition by monocytes. Mutations in @entity6820 have recently been found in @entity1 with @entity30 ( @entity30 ), a chronic inflammatory condition of the digestive tract. Here, we report the mutational analyses of @entity6820 in 453 @entity1 with @entity30 , including 166 sporadic and 287 familial cases, 159 @entity1 with @entity31 ( @entity31 ), and 103 healthy control subjects. Of 67 sequence variations identified, 9 had an allele frequency >5% in @entity1 with @entity30 . Six of them were considered to be polymorphisms, and three ( @entity20716 , @entity20717 , and 1007fs) were confirmed to be independently associated with susceptibility to @entity30 . Also considered as potential disease-causing mutations (DCMs) were 27 rare additional mutations. The three main variants ( @entity20716 , @entity20717 , and 1007fs) represented 32%, 18%, and 31%, respectively, of the total @entity30 mutations, whereas the total of the 27 rare mutations represented 19% of DCMs. Altogether, 93% of the mutations were located in the distal third of the gene. No mutations were found to be associated with @entity31 . In contrast, 50% of @entity1 with @entity30 carried at least one DCM, including 17% who had a double mutation. This observation confirmed the gene-dosage effect in @entity30 . The @entity1 with double-dose mutations were characterized by a younger age at onset (16.9 years vs. 19.8 years; P=.01), a more frequent stricturing phenotype (53% vs. 28%; P=.00003; odds ratio 2.92), and a less frequent colonic involvement (43% vs. 62%; P=.003; odds ratio 0.44) than were seen in those @entity1 who had no mutation. The severity of the disease and extraintestinal manifestations were not different for any of the @entity6820 genotypes. The proportion of familial and sporadic cases and the proportion of @entity1 with smoking habits were similar in the groups of @entity1 with @entity30 with or without mutation. These findings provide tools for a DNA-based test of susceptibility and for genetic counseling in @entity29 .

XXXX / @entity6820 mutational analysis and genotype-phenotype correlation in 612 @entity1 with @entity29 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity31 :: ('MESH:D003093', 'Disease') :: ['ulcerative colitis', 'UC'] @entity29 :: ('MESH:D015212', 'Disease') :: ['inflammatory bowel disease'] @entity20716 :: ('p|SUB|R|702|W', 'ProteinMutation') :: ['R702W'] @entity6820 :: ('64127', 'Gene') :: ['NOD2', 'CARD15'] @entity20717 :: ('p|SUB|G|908|R', 'ProteinMutation') :: ['G908R'] @entity30 :: ('MESH:D003424', 'Disease') :: ['CD', 'Crohn disease']
@entity6820 :: (64127,Gene) :: ['CARD15']
