Basic information of AHI1 :
| Official Symbol of Gene | AHI1 |
| Species | Homo sapiens |
| Entrez Gene ID | 54806 |
| Official Full Name | Abelson helper integration site 1 |
| Also known as | ORF1; AHI-1; JBTS3; dJ71N10.1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000135541 MIM:608894; AllianceGenome:HGNC:21575 |
| Map Location | 6q23.3 |
| Variation Type | SNP |
| refSNP ID | rs11154801 |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | Infinium 660K BeadChip,HumanOmniExpress BeadChip |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Northern European |
| Sample Size | 141 adult MS |
Literature information of multiple sclerosis :
| Pubmed ID | 29409597 |
| Year | 2018 |
| Title | The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | After adjustment for genetic ancestry, sex, age, vitamin D level, DMT use and HLA-DRB1*15 status, having two copies of the MS risk allele within AHI1 (rs11154801) was associated with increased relapses among children (HR = 1.75,95%CI = 1.18-2.48, p = 0.006) and this result was also observed among adults (HR = 1.81,95%CI = 1.05-3.03, p = 0.026). |
| Mechanism/Pathway | Our results suggest that the MS genetic risk variant within the gene AHI1 may contribute to disease course in addition to disease susceptibility. |
