IL6R
Gene name: interleukin 6 receptorOMIM ID: 147880
Chromosome location: 1q21.3
Polymorphisms
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_000565.3 | ||||||||||||||||||||
| DNA Change | c.1073A>C | ||||||||||||||||||||
| A.A. Change | p.Asp358Ala | ||||||||||||||||||||
| Exon/Intron | exon 9 | ||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||
| Reference SNP | rs2228145 | ||||||||||||||||||||
| Cases | 199 IBD patients | ||||||||||||||||||||
| Controls | 311 healthy controls | ||||||||||||||||||||
| Frequency |
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| 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. |