RESULT OF MUTATION
Total records: 1 Records
Record No:1
| ACCESS NO | 300020 |
| GENE_NAME | IL6R |
| dbSNP_ID | rs2228145 |
| CHANGES | A/C/T |
| ANCESTRAL_ALLELES | A |
| FUNCTIONAL_CONSEQUENCES | Missense Variant |
| DISEASE | Asthma |
| POPULATION | UK Biobank population |
| PMID | 28334838 |
| COMMENTS | An increased risk of atopic asthma compared to non-atopic asthma per copy of the minor allele of rs2228145. There was a positive association between the Asp358Ala variant and atopic asthma. Enhanced shedding of sIL-6R from neutrophils of Asp358Ala homozygotes and an increase in the MCP1 release from lung endothelial cells provides evidence of a mechanism through which IL-6 trans-signaling may contribute to disease severity in severe, neutrophil-driven, asthma phenotypes. |