Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

IL6R

Gene name: interleukin 6 receptor
OMIM ID: 147880
Chromosome location: 1q21.3

Polymorphisms

Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_000565.3
DNA Changec.1073A>C
A.A. Changep.Asp358Ala
Exon/Intronexon 9
Variation Typesubstitution
Reference SNPrs2228145
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC20 (10.15%)33 (10.89%)
CA85 (43.15%)125 (41.25%)1.04 (0.73-1.5) (Dominant)0.80
AA92 (46.70%)145 (47.85%)0.92 (0.51-1.66) (Recessive)0.79
ReferenceSenhaji 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.