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Basic information of LEP :

Official Symbol of Gene LEP
Species Homo sapiens
Entrez Gene ID 3952
Official Full Name leptin
Also known as OB; OBS; LEPD
Gene Type protein coding
dbXrefs Ensembl:ENSG00000174697 MIM:164160; AllianceGenome:HGNC:6553
Map Location 7q32.1
Variation Type SNP
refSNP ID rs7799039 or -2,548G > A

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR-RFLP
Disease MS
Disease subtype RRMS,PPMS,SPMS
Population N/A
Sample Size 305 MS patients / 255 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 30219158
Year 2018
Title Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result After classification of LEP rs7799039 genotypes to high (AA) and intermediate+low (AG+GG) leptin producers, it has been revealed that the frequency of high leptin producer genotype was significantly higher in male patients compared to male controls.
Mechanism/Pathway MS is mainly considered a Th1-mediated inflammatory disease,although recent studies postulate a vital role for helper T cells-17 (Th17 cells) in the pathogenesis of the disease .Therefore, the pathogenesis of MS is influenced by factors that affect the deviation of nave CD4+ Th cells towards Th1 or Th17 cells.Among different factors, the effects of adipokines such as adiponectin and leptin on Th cell deviation have recently drawn much attention.