Ontology highlight
ABSTRACT:
SUBMITTER: Lassen KG
PROVIDER: S-EPMC4040621 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Lassen Kara G KG Kuballa Petric P Conway Kara L KL Patel Khushbu K KK Becker Christine E CE Peloquin Joanna M JM Villablanca Eduardo J EJ Norman Jason M JM Liu Ta-Chiang TC Heath Robert J RJ Heath Robert J RJ Becker Morgan L ML Fagbami Lola L Horn Heiko H Mercer Johnathan J Yilmaz Omer H OH Jaffe Jacob D JD Shamji Alykhan F AF Bhan Atul K AK Carr Steven A SA Daly Mark J MJ Virgin Herbert W HW Schreiber Stuart L SL Stappenbeck Thaddeus S TS Xavier Ramnik J RJ
Proceedings of the National Academy of Sciences of the United States of America 20140512 21
A coding polymorphism (Thr300Ala) in the essential autophagy gene, autophagy related 16-like 1 (ATG16L1), confers increased risk for the development of Crohn disease, although the mechanisms by which single disease-associated polymorphisms contribute to pathogenesis have been difficult to dissect given that environmental factors likely influence disease initiation in these patients. Here we introduce a knock-in mouse model expressing the Atg16L1 T300A variant. Consistent with the human polymorph ...[more]