Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

A Genome-wide Small Interfering RNA (siRNA) Screen Reveals Nuclear Factor-κB (NF-κB)-independent Regulators of NOD2-induced Interleukin-8 (IL-8) Secretion

“…Given that many CD risk loci identified by GWAS contain multiple genes and that SNP signals alone are rarely able to confidently predict the causative gene, the identification of genes in CD loci that functionally affect NOD2-induced IL-8 levels may help to prioritize candidate genes for future studies. For example, on-going efforts aimed at exploring the genetic architecture of CD via deep DNA sequencing approaches (38,73) would probably benefit from having a more refined list of candidate genes, thereby reducing the search space for potential combinatorial FIGURE 6. A subnetwork of IL-8 regulators, many of which lie in loci associated with Crohn disease, are connected by PPIs.…”

Inferring causality and functional significance of human coding DNA variants

“…A number of successful candidate gene sequencing studies discovered associations of multiple rare coding variants with complex phenotypes (23)(24)(25)(26)(27)(28)(29)(30)(31)(32). Ongoing whole-exome sequencing studies attempt an unbiased search for genes harboring multiple rare variants collectively associated with complex traits (33).…”

Genetic Approach to Frequently Seen Pediatric Gastrointestinal System Diseases: Review

“…"Macrophage stimulating 1 (MST1)", "interlökin 2 (IL2)", "caspase recruitment domain family, member 9 (CARD9)" ve "V-Rel avian reticuloendotheliosis viral oncogene homolog (REL)" genleri ülseratif kolit ve komplikasyonu olan primer sklerozan kolanjit ile ilişkilidir. 49 Son yıllarda yapılan GWAS çalışmaları ile bu hastalıklardan sorumlu tutulan genler Tablo 3'te görülmektedir. Bunların arasında CARD15, interlökin 23 reseptör (IL23R), "autophagy related 16-like 1 (ATG16L1)" genlerine özel önem verilmektedir.…”