rs11763517
This is a intron variant variant in the LEP gene.
▶Research that mentions this SNP (4)
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶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.
▶Adipokine genes and prostate cancer riskAssociationN=2,106Steven C. Moore et al.(2009)· International Journal of Cancer
This large case-control study of 1,053 Finnish prostate cancer cases and 1,053 controls examined common variants in adipokine genes (IL6, LEP, LEPR, TNF, ADIPOQ). Three LEP gene polymorphisms (-14858A>G, -13973A>C, -13736C>A) were associated with approximately 20% reduced prostate cancer risk (OR=0.76-0.79), while the LEP -13288A>G AA genotype showed suggestive increased risk (OR=1.29). No significant associations were found for IL6, LEPR, TNF, or ADIPOQ variants.
▶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.
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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