Basic information of TBX21 :

Official Symbol of Gene	TBX21
Species	Homo sapiens
Entrez Gene ID	30009
Official Full Name	T-box transcription factor 21
Also known as	TBET; IMD88; T-PET; T-bet; TBLYM
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000073861 MIM:604895; AllianceGenome:HGNC:11599
Map Location	17q21.32
Variation Type	polymorphisms
refSNP ID	1514T > C

Sample information of multiple sclerosis:

Detected Sample	leukocytes of the peripheral blood
Sample Detail	N/A
Detected Method	PCR-SSCP
Disease	MS
Disease subtype	RRMS
Population	Iranian
Sample Size	248 MS patients / 163 matched healthy controls

Literature information of multiple sclerosis :

Pubmed ID	30886677
Year	2018
Title	The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis

Results of multiple sclerosis :

Risk Type	Disease risk
Main Result	Positive
Result	Strong association between the wild -1514T allele and MS susceptibility was found with the allelic frequency of 99.6% in patients vs. 95.1% in controls, and the CC genotype frequency of the TBX21 polymorphism (-1514T > C) reported potential protective effect against the disease.
Mechanism/Pathway	The pathogenesis of MS is mediated by the development of auto-aggressive T-lymphocytes in peripheral immune organs, which migrate through the blood-brain barrier (BBB);thus, triggering inflammation, and eventually leading to demyelination and degeneration of axons.The developmental regulation of auto-reactive T-helper cells is mainly determined by various transcription factors such as T-bet, which involves with up-regulating the production of interferon gamma (IFNγ) in Th1 cell subtypes.Considering the autonomous activity of Th1 cells as one reason for MS, many evaluations have been done on T-bet transcription factor.T-bet is still necessary for the survival of Th17 cells through regulating the expression of the IL-23 receptor.