Inflammatory bowel disease: genetic and epidemiologic considerations.
Genome-wide association studies have firmly established that many genomic loci contribute to inflammatory bowel disease, especially in Crohn's disease. These studies have newly-established the importance of the interleukin 23 and autophagy pathways in disease pathogenesis. Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors.
Cho
Judy H
JH
Inflammatory Bowel Disease Center, Yale University, 300 Cedar Street, New Haven, CT 06519, USA. judy.cho@yale.edu
D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D002895:Chromosomes, Human, Pair 5; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006680:HLA Antigens / Q000235:genetics / Q000378:metabolism; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000453:epidemiology / Q000235:genetics; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics / Q000378:metabolism; D012307:Risk Factors; D053380:Tumor Necrosis Factor Ligand Superfamily Member 15 / Q000235:genetics / Q000378:metabolism
C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D006680:HLA Antigens; C515500:IL23R protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D018123:Receptors, Interleukin; C117026:TNFSF15 protein, human; D053380:Tumor Necrosis Factor Ligand Superfamily Member 15