rs2767485
This is a regulatory region variant variant in the LEPR gene.
▶Research that mentions this SNP (1)
▶Leptin −2548 G/A polymorphisms are associated to clinical progression of oral cancer and sensitive to oral tumorization in nonsmoking populationAssociationN=237Wei‐Chen Hung et al.(2019)· Journal of Cellular Biochemistry
A case-control study of 237 Brazilian women with endometriosis found that the LEPR rs1137100 A>G polymorphism is significantly associated with increased risk of chronic pelvic pain (OR=1.75; 95% CI=1.05-2.89) and dyspareunia (OR=1.78; 95% CI=1.01-3.12). The LEP rs7799039 G>A polymorphism showed no significant association with endometriosis-related painful symptoms.
About LEPR
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
View all LEPR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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