{{Rsnum
|rsid=1137100
|Gene=LEPR
|Chromosome=1
|position=65570758
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3852
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=LEPR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 49.6 | 42.5 | 8.0
| HCB | 1.5 | 30.8 | 67.7
| JPT | 3.7 | 40.7 | 55.6
| YRI | 70.5 | 26.7 | 2.7
| ASW | 66.1 | 26.8 | 7.1
| CHB | 1.5 | 30.8 | 67.7
| CHD | 0.9 | 24.5 | 74.5
| GIH | 75.2 | 21.8 | 3.0
| LWK | 88.2 | 10.9 | 0.9
| MEX | 50.0 | 43.1 | 6.9
| MKK | 82.1 | 16.7 | 1.3
| TSI | 67.6 | 28.4 | 3.9
| HapMapRevision=28
}}

{{omim
|desc=LEPTIN RECEPTOR POLYMORPHISM
|id=601007
|rsnum=1137100
|variant=0004
}}

[[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 Auto
|PMID=19921265
|Title=The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders
}}

{{PMID Auto
|PMID=20032477
|Title=Leptin receptor polymorphisms interact with polyunsaturated fatty acids to augment risk of insulin resistance and metabolic syndrome in adults
}}

{{PMID Auto
|PMID=20183928
|Title=The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders
}}

{{PMID Auto
|PMID=20167575
|Title=Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels
|OA=1
}}

{{PMID Auto
|PMID=20874424
|Title=Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis
}}

{{PMID Auto
|PMID=21512510
|Title=The Effect of Ponderal Index at Birth on the Relationships Between Common LEP and LEPR Polymorphisms and Adiposity in Adolescents
}}

{{PMID Auto
|PMID=21516303
|Title=Common genetic variation in adiponectin, leptin, and leptin receptor and association with breast cancer subtypes
|OA=1
}}

{{ClinVar
|rsid=1137100
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=65570758
|CHROM=1
|GMAF=0.3851
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050168000a0517051f110101
|GENEINFO=LEPR:3953
|GENE_NAME=LEPR
|GENE_ID=3953
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.65570758A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.6148; 0.3852
|CLNACC=RCV000009049.1
|CLNDBN=LEPTIN RECEPTOR POLYMORPHISM
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001003679.3:c.326A>G; 601007.0004
|COMMON=1
|Disease=LEPTIN RECEPTOR POLYMORPHISM
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=18059035
|Title=Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.
|OA=1
}}

{{PMID Auto
|PMID=18212354
|Title=Genes in glucose metabolism and association with spina bifida.
|OA=1
}}

{{PMID Auto
|PMID=18249219
|Title=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 Auto
|PMID=18282109
|Title=Adaptations to climate in candidate genes for common metabolic disorders.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=19035456
|Title=Adipokine genes and prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19401628
|Title=Host genetics, steatosis and insulin resistance among African Americans and Caucasian Americans with hepatitis C virus genotype-1 infection.
|OA=1
}}

{{PMID Auto
|PMID=20149225
|Title=Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis.
|OA=1
}}

{{PMID Auto
|PMID=21393862
|Title=A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.
|OA=1
}}

{{PMID Auto
|PMID=22228719
|Title=Common variants of IL6, LEPR, and PBEF1 are associated with obesity in Indian children.
|OA=1
}}

{{PMID Auto
|PMID=23054017
|Title=The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan
}}

{{GET Evidence
|gene=LEPR
|aa_change=Lys109Arg
|aa_change_short=K109R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1137100
|overall_frequency_n=2489
|overall_frequency_d=10758
|overall_frequency=0.231363
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.026
|genetests_testable=Y
|nblosum100=-3
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23278404
|Title=The impact of LEPR variants on risk of non-alcoholic fatty liver disease and its interaction with PNPLA3 variant
}}

{{PMID Auto
|PMID=23427181
|Title=Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile
}}

{{PMID Auto
|PMID=24468228
|Title=Leptin Signaling and Hyperparathyroidism: Clinical and Genetic Associations
}}

{{PMID Auto
|PMID=22975643
|Title=Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training.
|OA=1
}}

{{PMID Auto
|PMID=22983835
|Title=The association between polymorphisms in the leptin receptor gene and risk of breast cancer: a systematic review and pooled analysis.
}}

{{PMID Auto
|PMID=25028703
|Title=Maternal Genotype and Severe Preeclampsia: A HuGE Review
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}