Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Copyright policy )Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Inflammatory bowel disease (IBD) is a common inflammatory disorder with complex etiology that involves both genetic and environmental triggers, including but not limited to defects in bacterial clearance, defective mucosal barrier and persistent dysregulation of the immune response to commensal intestinal bacteria. IBD is characterized by two distinct phenotypes: Crohn's disease (CD) and ulcerative colitis (UC). Previously reported GWA studies have identified genetic variation accounting for a small portion of the overall genetic susceptibility to CD and an even smaller contribution to UC pathogenesis. We hypothesized that stratification of IBD by age of onset might identify additional genes associated with IBD. To that end, we carried out a GWA analysis in a cohort of 1,011 individuals with pediatric-onset IBD and 4,250 matched controls. We identified and replicated significantly associated, previously unreported loci on chromosomes 20q13 (rs2315008[T] and rs4809330[A]; P = 6.30 x 10(-8) and 6.95 x 10(-8), respectively; odds ratio (OR) = 0.74 for both) and 21q22 (rs2836878[A]; P = 6.01 x 10(-8); OR = 0.73), located close to the TNFRSF6B and PSMG1 genes, respectively.
- Roma Tre University Italy
- Sapienza University of Rome Italy
- University of Pennsylvania United States
- University of Utah United States
- Emory University United States
Male, Adolescent, Chromosomes, Human, Pair 21, Genetic Linkage, Genome, Human, Receptors, Tumor Necrosis Factor, Member 6b, Chromosomes, Human, Pair 20, 610, Chromosome Mapping, Infant, Inflammatory Bowel Diseases, Polymorphism, Single Nucleotide, Cohort Studies, Haplotypes, Case-Control Studies, Child, Preschool, Humans, Female, Genetic Predisposition to Disease, Age of Onset, Child
Male, Adolescent, Chromosomes, Human, Pair 21, Genetic Linkage, Genome, Human, Receptors, Tumor Necrosis Factor, Member 6b, Chromosomes, Human, Pair 20, 610, Chromosome Mapping, Infant, Inflammatory Bowel Diseases, Polymorphism, Single Nucleotide, Cohort Studies, Haplotypes, Case-Control Studies, Child, Preschool, Humans, Female, Genetic Predisposition to Disease, Age of Onset, Child
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