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Basic information of IKZF3 :

Official Symbol of Gene IKZF3
Species Homo sapiens
Entrez Gene ID 22806
Official Full Name IKAROS family zinc finger 3
Also known as AIO, AIOLOS, IMD84, ZNFN1A3
Gene Type protein coding
dbXrefs Ensembl:ENSG00000161405 MIM:606221; AllianceGenome:HGNC:13178
Map Location 17q12-q21.1
Variation Type SNP
refSNP ID rs907091

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method qPCR,online tools SNAP
Disease MS
Disease subtype N/A
Population Norwegian
Sample Size 140 MS patients/46 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 27080863
Year 2016
Title Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result The transcript of the haplotype containing the MS risk allele at rs907091 in IKZF3, showed consistently higher expression level in all MS samples.Consistent allelic imbalance is observed for rs907091 in IKZF3. The studied SNP in IKZF3 is located in a cis-regulatory element, or that these SNPs mark a functional cis-regulatory element that impacts the per-allele transcript abundance in whole blood, independent of disease status.
Mechanism/Pathway N/A