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- W2324620512 abstract "The NOX2 NADPH oxidase complex produces reactive oxygen species and plays a critical role in microbe killing by phagocytes. Genetic mutations in genes encoding components of the complex result in both X-linked and autosomal recessive forms of Chronic Granulomatous Disease (CGD). CGD patients often develop intestinal inflammation that is histologically similar to Crohn's colitis, suggesting a common etiology for both diseases. The aim of this study is to determine if polymorphisms in NOX2 NADPH oxidase complex genes that do not cause CGD are associated with the development of Inflammatory Bowel Disease (IBD). Direct sequencing and candidate gene approaches were used to identify susceptibility loci in NADPH oxidase complex genes. Functional studies were carried out on identified variants. Novel findings were replicated in independent cohorts. Sequence analysis identified a novel missense variant in the NCF2 gene (neutrophil cytosolic factor 2) that is associated with very early-onset IBD (VEO-IBD) and subsequently found in 4% of VEO-IBD patients versus 0.2% of controls (P = 1.3 × 10-5, OR = 23.8 (3.9 - 142.5); Fischer Exact Test). This variant reduced binding of the NCF2 gene product p67phox to RAC2. We report a novel genetic association with RAC2 and CD and replicate the previously reported association of NCF4 with ileal CD. These studies suggest that the rare novel p67phox variant results in partial inhibition of oxidase function and is associated with CD in a subgroup of patients with VEO-IBD; and suggest that components of the NADPH oxidase complex are associated with CD. Accepted in Gut." @default.
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- W2324620512 date "2011-12-01" @default.
- W2324620512 modified "2023-10-18" @default.
- W2324620512 title "NADPH oxidase complex and IBD Candidate Gene studies" @default.
- W2324620512 doi "https://doi.org/10.1097/00054725-201112002-00020" @default.
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