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Basic information of NRG1 :

Official Symbol of Gene NRG1
Species Homo sapiens
Entrez Gene ID 3084
Official Full Name neuregulin 1
Also known as GGF; HGL; HRG; NDF; ARIA; GGF2; HRG1; HRGA; SMDF; MST131; MSTP131; NRG1-IT2
Gene Type protein coding
dbXrefs Ensembl:ENSG00000157168 MIM:142445; AllianceGenome:HGNC:7997
Map Location 8p12
Variation Type SNP
refSNP ID rs6994992

Sample information of multiple sclerosis:

Detected Sample whole blood
Sample Detail N/A
Detected Method PCR-RLFP
Disease MS
Disease subtype RRMS,PPMS,SPMS
Population Iranian
Sample Size 165 MS / 200 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 25802071
Year 2015
Title Two functional promoter polymorphisms of neuregulin 1 gene are associated with progressive forms of multiple sclerosis

Results of multiple sclerosis :

Risk Type Phenotypic risk
Main Result Positive
Result By classification for clinical MS groups, significant difference in the genotype frequency was observed between SPMS patients and controls for SNP rs6994992 and also, a significant difference in the allelic distributions between PPMS patients and controls was revealed;there was a significant shift in frequency of C allele between PPMS group vs. other type of MS.
Mechanism/Pathway Neuregulin 1 (NRG1) is a signaling protein that mediates cell–cell interactions and plays critical roles in the growth of the nervous system. This gene has isoforms which are generated through alternative splicing and different promoter usage.