|(A;A)||0||common in clinvar|
rs1137100 is a nonsynonymous coding SNP in exon 4 of the leptin receptor LEPR gene. It has been reported to affect glucose tolerance and insulin response, and it is also one of five SNPs reported to be useful in a SNP set defining the risk of dying from prostate cancer among patients with the disease; see gs242 and gs243.
[PMID 19921265] The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders
[PMID 20032477] Leptin receptor polymorphisms interact with polyunsaturated fatty acids to augment risk of insulin resistance and metabolic syndrome in adults
[PMID 20183928] The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders
[PMID 20167575] Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels
[PMID 20874424] Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis
[PMID 21512510] The Effect of Ponderal Index at Birth on the Relationships Between Common LEP and LEPR Polymorphisms and Adiposity in Adolescents
[PMID 21516303] Common genetic variation in adiponectin, leptin, and leptin receptor and association with breast cancer subtypes
|Disease||LEPTIN RECEPTOR POLYMORPHISM Leptin receptor deficiency Monogenic Non-Syndromic Obesity|
|CLNDBN||LEPTIN RECEPTOR POLYMORPHISM Leptin receptor deficiency Monogenic Non-Syndromic Obesity|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000009049.3, RCV000309499.1, RCV000366432.1,|
[PMID 15113403] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
[PMID 15157284] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 18059035] Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.
[PMID 18212354] Genes in glucose metabolism and association with spina bifida.
[PMID 18249219] Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes Prevention Study.
[PMID 18282109] Adaptations to climate in candidate genes for common metabolic disorders.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 19035456] Adipokine genes and prostate cancer risk.
[PMID 19401628] Host genetics, steatosis and insulin resistance among African Americans and Caucasian Americans with hepatitis C virus genotype-1 infection.
[PMID 20149225] Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis.
[PMID 21393862] A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.
[PMID 22228719] Common variants of IL6, LEPR, and PBEF1 are associated with obesity in Indian children.
[PMID 23054017] The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan
[PMID 23278404] The impact of LEPR variants on risk of non-alcoholic fatty liver disease and its interaction with PNPLA3 variant
[PMID 23427181] Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile
[PMID 24468228] Leptin Signaling and Hyperparathyroidism: Clinical and Genetic Associations
[PMID 22975643] Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training.
[PMID 22983835] The association between polymorphisms in the leptin receptor gene and risk of breast cancer: a systematic review and pooled analysis.
[PMID 25028703] Maternal Genotype and Severe Preeclampsia: A HuGE Review
[PMID 25810718] Polymorphism in LEP and LEPR May Modify Leptin Levels and Represent Risk Factors for Thyroid Cancer
[PMID 26043189] Genetic determinants of quantitative traits associated with cardiovascular disease risk
[PMID 26588347] Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults
[PMID 27459797] [Association of leptin receptor gene polymorphrism with metabolic syndrome in older Han adults from major cities in China].
[PMID 29903247] [Relationship of diabetes mellitus in older Han adults in China with leptin receptor gene rs1137100 and rs1137101 polymorphrism].