rs1327118
This variant is located in the LEPR gene.
▶Research that mentions this SNP (1)
▶Genetic polymorphisms in obesity‐related genes and endometrial cancer riskAssociationN=2,960Xiaoli Chen et al.(2012)· Cancer
This case-control study of 1,028 endometrial cancer cases and 1,932 controls from Shanghai evaluated 87 SNPs in five obesity-related genes (ADIPOQ, ADIPOR1, ADIPOR2, LEP, LEPR). Three ADIPOQ SNPs (rs3774262 OR=0.68, rs1063539 OR=0.66, rs12629945) and one LEP SNP (rs2071045 OR=0.70) were significantly associated with reduced endometrial cancer risk. The ADIPOQ variants were also associated with lower body weight, waist circumference, and BMI in controls, suggesting a potential mechanism through obesity.
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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