rs3828942
This is a intron variant variant in the LEP gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Characteristics of a spina bifida population including North American Caucasian and Hispanic individualsAssociationN=865Kit Sing Au et al.(2008)· Birth Defects Research Part A: Clinical and Molecular Teratology
A study of 865 meningomyelocele (MM) patients recruited from six sites in North America (45.9% Hispanic Mexican, 36.2% Caucasian) to identify genetic risk factors for spina bifida using transmission disequilibrium testing. The researchers identified maternal MTHFR 667T allele as a risk factor and found genes involved in glucose transport and metabolism as potential risk factors for MM.
▶Leptin and leptin receptor genotypes and colon cancer: Gene–gene and gene–lifestyle interactionsAssociationN=3,532Martha L. Slattery et al.(2008)· International Journal of Cancer
Case-control study of 1,567 colon cancer cases and 1,965 controls examining leptin (LEP) and leptin receptor (LEPR) genetic variants. The AA genotype of LEP rs2167270 was associated with reduced colon cancer risk (OR 0.79, 95% CI 0.64-0.98). Significant gene-gene and gene-lifestyle interactions were observed with aspirin/NSAID use, insulin pathway genes (IGF1, IRS2), and vitamin D receptor (VDR) polymorphisms, suggesting mechanisms independent of energy balance.
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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