Polymorphism of OCTN2 cation transporter OCTN1 and related to inflammatory bowel disease

摘要

The present invention provides a method of using a genetic marker traits that are involved in the (CD) Crohn early-onset and severe, to diagnose inflammatory bowel disease. The present invention also provides significantly reduces the transport capacity of the organic cation carnitine, the coding sequence mutations in OCTN1 gene. The present invention also provides (mutations that down-regulate any of the transcription induced by either arachidonic acid basal transcription, and or heat shock) mutations in the promoter region of the OCTN2 gene. This difference in transcription, seems to be due to the destruction of the (HSF1) binding site heat shock transcription factor 1 apparently. Haplotypes that combines two mutations which are found in Crohn's disease (CD) patients. In addition, these mutations, reduce the response capacity of the cells to metabolic stress in inflamed tissue, but I is believed to have been involved in the elimination of toxic substances from the cells. The present invention is, that for the development of therapeutic compounds that are intended to be useful in the treatment of inflammation and general inflammatory bowel disease, using as targets them identifying and polypeptide sequence encoded by the polynucleotide and these This is in consideration.