Studies from E. Cantó and co-researchers update current data on gastroenterology
2007 NOV 12 -- Researchers detail in 'Influence of a nucleotide oligomerization domain 1 (NOD1) polymorphism and NOD2 mutant alleles on Crohn's disease phenotype,' new data in gastroenterology. In this recently published study, investigators in Barcelona, Spain conducted a study "To examine genetic variation of nucleotide oligomerization domain 1 (NOD1) and NOD2, their respective influences on Crohn's disease phenotype and gene-gene interactions (ND(1)+32656*) NOD1 polymorphism and SNP8, SNP12 and SNP13 of NOD2 were analyzed in 97 patients and 50 controls. NOD2 variants were determined by reaction restriction fragment length polymorphism analysis." "NOD1 genotyping and NOD2 variant confirmation were performed by specific amplification and sequencing The distribution of NOD1 polymorphism in patients was different from controls (p=0.045) and not altered by existence of NOD2 mutations. In this cohort, 30.92% patients and 6% controls carried at least one NOD2 variant (p <0.001) with R702W being the most frequent variant. Presence of at least one NOD2 mutation was inversely associated with colon involvement (9.09% with colon vs 36.4% with ileal or ileocolonic involvement, p=0.04) and indicative of risk of penetrating disease (52.63% with penetrating vs 25.64% with non-penetrating or stricturing behavior, p=0.02). L1007finsC and double NOD2 mutation conferred the highest risk for severity of disease (26.3% with penetrating disease vs 3.8% with non-penetrating or stricturing behavior presented L1007finsC, p=0.01 and 21.0% with penetrating disease vs 2.5% with non-penentrating or stricturing behavior carried double NOD2 mutation, p=0.007). Exclusion of patients with NOD2 mutations from phenotype/NOD1-genotype analysis revealed higher prevalence of *1*1 genotype in groups of younger age at onset and colonic location This study suggests population differences in the inheritance of risk NOD1 polymorphism and NOD2 mutations," wrote E. Cantó and colleagues, . The researchers concluded: "Although no interaction between NOD1-NOD2 was noticed, a relationship between disease location and Nod-like receptor molecules was established." Cantó and colleagues published their study in World Journal of Gastroenterology (Influence of a nucleotide oligomerization domain 1 (NOD1) polymorphism and NOD2 mutant alleles on Crohn's disease phenotype. World Journal of Gastroenterology, 2007;13(41):5446-53). For additional information, contact E. Cantó, Sant Pau Hospital & Research Institute Sant Pau Hospital, Dept. of Immunology, Barcelona 08025, Spain. The publisher of the World Journal of Gastroenterology can be contacted at: W J G Press, PO Box 2345, Beijing 100023, People's Republic of China. Keywords: Spain, Barcelona, Crohn Disease, Gastroenterology, Gastrointestinal. This article was prepared by Gastroenterology Week editors from staff and other reports. Copyright 2007, Gastroenterology Week via NewsRx.com.
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