The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants

Background: The aims were to analyze two novel NOD2 variants
(rs2066843 and rs2076756) in a large cohort of patients with
inflammatory bowel disease and to elucidate phenotypic
consequences. Methodology/Principal Findings: Genomic DNA from 2700
Caucasians including 812 patients with Crohn's disease (CD), 442
patients with ulcerative colitis (UC), and 1446 healthy controls
was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the
three main CD-associated NOD2 variants p.Arg702Trp (rs2066844),
p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847).
Haplotype and genotype-phenotype analyses were performed. The SNPs
rs2066843 (p = 3.01×10−5, OR 1.48, [95% CI 1.23-1.78]) and
rs2076756 (p = 4.01×10−6; OR 1.54, [95% CI 1.28-1.86]) were
significantly associated with CD but not with UC susceptibility.
Haplotype analysis revealed a number of significant associations
with CD susceptibility with omnibus p values