Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn disease susceptibility

By M. Parkes, J. Barrett, N. Prescott, M. Tremelling, C. Anderson, S. Fisher, R. Roberts, E. Nimmo, Fraser Cummings, D. Soars and 20 more. Nature Genetics, 2007

1,239 citations recorded by the source corpus.

A genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust Case Control Consortium detected strong association at four novel loci. We tested 37 SNPs from these and other loci for association in an independent case-control sample. We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 × 10−4, combined P = 2.1 × 10−10) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13.

Subfields: Genetics, Immunology, Surgery

View Paper: https://www.semanticscholar.org/paper/cd455d632d38e32f0b5e465baf2368a68324f772

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In Genetics

1. Mark J. Daly
2. David Altshuler
3. Judy H. Cho
4. Jonathan Marchini
5. Barbara E. Stranger
6. Stephen B. Montgomery
7. Beth Levine
8. P. Rutgeerts

In Immunology

1. Judy H. Cho
2. S. Perwez Hussain
3. Beth Levine
4. C. Harris
5. V. Deretic
6. G. Hotamışlıgil
7. T. Kanai
8. K. Matsuoka

In Surgery

1. Beth Levine
2. Mark J. Daly
3. David Altshuler
4. Severine Vermeire
5. V. Deretic
6. G. Hotamışlıgil
7. C. Hetz

Citations in the corpus

• Innate and adaptive immunity in inflammatory bowel disease. (2014, background): “CD has also been associated with mutations in ATG16L1 and IRGM genes, which are involved in autophagy, a highly conserved cellular process where the formation of a double-membrane vesicle around invading intracellular bacteria or cellular cytoplasmic material enables efficient degradation [31,32].”
• Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease (2010, positive): “Genome-wide association studies (GWAS) have identified two genes encoding proteins within the autophagy pathway, Atg16L and IRGM, that are associated with inflammatory bowel disease (Hampe et al., 2007; Parkes et al., 2007).”
• Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations (2010, background): “Independent studies detected significant Crohn’s associations of two SNPs in the same hotspot interval on chromosome 3 (rs3197999 [12], a non-synonymous SNP in gene MST1 and rs9858542 [1,22], a synonymous SNP in nearby gene BSN).”