Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Fisher SA., Tremelling M., Anderson CA., Gwilliam R., Bumpstead S., Prescott NJ., Nimmo ER., Massey D., Berzuini C., Johnson C., Barrett JC., Cummings FR., Drummond H., Lees CW., Onnie CM., Hanson CE., Blaszczyk K., Inouye M., Ewels P., Ravindrarajah R., Keniry A., Hunt S., Carter M., Watkins N., Ouwehand W., Lewis CM., Cardon L., Wellcome Trust Case Control Consortium None., Lobo A., Forbes A., Sanderson J., Jewell DP., Mansfield JC., Deloukas P., Mathew CG., Parkes M., Satsangi J.
We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.