Basic information of MTHFR :

Official Symbol of Gene	MTHFR
Species	Homo sapiens
Entrez Gene ID	4524
Official Full Name	methylenetetrahydrofolate reductase
Also known as	N/A
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000177000 MIM:607093; AllianceGenome:HGNC:7436
Map Location	1p36.22
Variation Type	SNP
refSNP ID	rs1801131

Sample information of multiple sclerosis:

Detected Sample	blood and saliva samples
Sample Detail	N/A
Detected Method	PCR
Disease	MS
Disease subtype	RRMS, SPMS
Population	Kuwaiti
Sample Size	170 MS patients / 311 healthy controls

Literature information of multiple sclerosis :

Pubmed ID	32355262
Year	2020
Title	Replication analysis of variants associated with multiple sclerosis risk

Results of multiple sclerosis :

Risk Type	Disease risk
Main Result	Positive
Result	MTHFR rs1801131G allele significantly associated with MS risk.MTHFR rs1801131 genotype distribution differed between the two cohorts after adjusting for sex and age.
Mechanism/Pathway	MTHFR is an enzyme involved in the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate and the missense variant rs1801131 (E429A) has been shown to cause decreased MTHFR enzymatic function and is associated with impaired folate metabolism and mild increases in homocysteine levels (hyperhomocysteinemia) that is reported to occur in MS patients.Sustained elevated homocysteine levels associate with cardiovascular disturbances that are thought to predispose to MS pathogenesis and progression.