A single nucleotide polymorphism in dopamine beta hydroxylase (rs6271(C>T)) is over-represented in inflammatory bowel disease patients and reduces circulating enzyme

• Published in: PloS one Vol. 14; no. 2; p. e0210175
• Main Authors: Gonzalez-Lopez, Eugene, Kawasawa-Imamura, Yuka, Zhang, Lijun, Huang, Xuemei, Koltun, Walter A., Coates, Matthew D., Vrana, Kent E.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 28.02.2019; Public Library of Science (PLoS)
• Subjects: Amino Acid Substitution; Biology and Life Sciences; Blood flow; Cardiotonic agents; Dopamine; Dopamine beta-Hydroxylase - blood; Dopamine beta-Hydroxylase - genetics; Enzyme-linked immunosorbent assay; Enzymes; Exome; Exome sequencing; Female; Gastrointestinal diseases; Gastrointestinal system; Genetic aspects; Genetic polymorphisms; Humans; Hydroxylases; Inflammatory bowel diseases; Inflammatory Bowel Diseases - enzymology; Inflammatory Bowel Diseases - genetics; Male; Medicine and Health Sciences; Neurons; Phenols (Class of compounds); Physical Sciences; Polymorphism, Single Nucleotide; Research and Analysis Methods; Risk factors; Single nucleotide polymorphisms; Germany

Inflammatory bowel diseases (IBD) are associated with altered neuronal regulation of the gastrointestinal (GI) tract and release of norepinephrine (NE). As sympathetic innervation of the GI tract modulates motility, blood flow, and immune function, changes in NE signaling may alter the risk of devel...