Scientists Find Variation in JAK2 Gene That Can Lead to IBD

Scientists Find Variation in JAK2 Gene That Can Lead to IBD
Scientists have discovered a genetic variation in the janus kinase 2 (JAK2) gene — a gene involved in a signaling pathway implicated in other autoimmune diseases — that can lead to the onset of inflammatory bowel disease (IBD). The findings were reported in the study “Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism,” which was published in the Journal of Crohn’s and Colitis. IBD comprises a group of autoimmune disorders that cause inflammation and disrupt the function of the gastrointestinal tract. To date, more than 240 genetic regions have been associated with the development of IBD. A small subset of these regions are located in DNA sequences that do not encode proteins — called non-coding regions. The single nucleotide polymorphism (SNP) rs1887428, which is found in the promoter region of the JAK2 gene, is one of the genetic variants located in a non-coding region of the genome that is thought to increase the risk of IBD. SNPs, pronounced “snips,” are variations in a single nucleotide — the building blocks of DNA — in the DNA sequence of a gene. A promoter is a non-coding region of a gene that is responsible for controlling its activity, and the genome refers to all of the genes present in our DNA. The rs1887428 SNP was the target of the new study led by researchers at Children's Hospital of Philadelphia (CHOP), who focus on investigating the genetic factors contributing to the development of IBD. “We chose this SNP for in-depth study because of its high probability for modifying JAK2 expression [activity],” Christopher Cardinale, MD, PhD, a scientist at the Center for Applied Genomics at CHOP and first author of the study, said in a press release. JAK2 provid
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