IL6ST
Gene name: interleukin 6 signal transducerOMIM ID: 600694
Chromosome location: 5q11.2
Polymorphisms
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001190981.1 | ||||||||||||||||||||
| DNA Change | c.442G>C | ||||||||||||||||||||
| A.A. Change | p.Gly148Arg | ||||||||||||||||||||
| Exon/Intron | exon 5 | ||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||
| Reference SNP | rs2228044 | ||||||||||||||||||||
| Cases | 199 IBD patients | ||||||||||||||||||||
| Controls | 311 healthy controls | ||||||||||||||||||||
| Frequency |
| ||||||||||||||||||||
| Reference | Senhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J.
Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort. Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3. |