rs791620
This is a upstream gene variant variant in the LEP gene.
▶Research that mentions this SNP (1)
▶Are common leptin promoter polymorphisms associated with restenosis after coronary stenting?AssociationN=300Julie Anna Bienertová-Vašků et al.(2007)· Heart and Vessels
This case-control study investigated associations between two common leptin gene promoter polymorphisms (LEP -2548 G/A [rs7799039] and LEP -188 C/A [rs791620]) and restenosis after coronary stenting in 98 CAD patients and 202 healthy controls. While neither polymorphism was associated with restenosis risk, the study found that the AG heterozygote genotype of LEP -2548 G/A showed a 4.038-fold increased risk for multiple-vessel disease (95% CI: 1.732-9.465, P = 0.001) compared to homozygote genotypes.
About LEP
This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]
View all LEP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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