Basic information of AIRE :

Official Symbol of Gene	AIRE
Species	Homo sapiens
Entrez Gene ID	326
Official Full Name	autoimmune regulator
Also known as	APS1; APSI; PGA1; AIRE1; APECED
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000160224 MIM:607358; AllianceGenome:HGNC:360
Map Location	21q22.3
Variation Type	SNP
refSNP ID	rs1800520

Sample information of multiple sclerosis:

Detected Sample	blood leukocytes
Sample Detail	N/A
Detected Method	HRM real-time PCR
Disease	MS
Disease subtype	N/A
Population	Iranian
Sample Size	112 MS patients / 94 ethnically matched controls

Literature information of multiple sclerosis :

Pubmed ID	29849988
Year	2018
Title	Association of AIRE Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population

Results of multiple sclerosis :

Risk Type	Disease risk
Main Result	Positive
Result	Results showed that AIRE SNP rs1800520 was significantly less common in the MS patients than in healthy controls. Also, the frequency of allele G was significantly higher among the control group than in the case group.
Mechanism/Pathway	The co-occurrence of autoimmune diseases in the same individual has prompted several studies aimed to recognize shared pathophysiological mechanisms. AIRE protein acts as a powerful transcriptional trans-activator. The highest level of AIRE expression is in thymus where it is seen in a subpopulation of modularly Thymic Epithelial Cells (mTEC).In mTECs, AIRE is required for the expression of many Tissue-Restricted self-Antigens (TRAs).The expression of TRAs in mTECs allows the negative selection of autoreactive lymphocytes.In the absence of functional AIRE, human patients and mice develop multi-organ autoimmune disease due to a defect in thymic negative selection.