{{Rsnum
|rsid=1137101
|Gene=LEPR
|Chromosome=1
|position=65592830
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4105
|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 | 25.9 | 53.6 | 20.5
| HCB | 2.2 | 17.8 | 80.0
| JPT | 0.9 | 33.9 | 65.1
| YRI | 11.3 | 57.7 | 31.0
| ASW | 19.6 | 35.7 | 44.6
| CHB | 2.2 | 17.8 | 80.0
| CHD | 0.0 | 27.6 | 72.4
| GIH | 26.0 | 54.0 | 20.0
| LWK | 31.5 | 47.2 | 21.3
| MEX | 24.6 | 56.1 | 19.3
| MKK | 24.4 | 59.0 | 16.7
| TSI | 36.0 | 51.0 | 13.0
| HapMapRevision=28
}}{{PMID|19142102}} [[obesity]] Q223R [[rs1137101]] may be associated with obesity in women with a psychotic disorder treated with atypical antipsychotic drugs 

{{PMID|19337797}}  Gln223Arg polymorphism could be considered a disease susceptibility modulating factor both in [[ischemic heart disease]] or dilated cardiomyopathy patients.

{{omim
| id = 601007
| variant = 0003
| desc    = LEPTIN RECEPTOR POLYMORPHISM
| rsnum   = 1137101
}}

{{PMID Auto
|PMID=19273568
|Title=Genetic variation in adipokine genes and risk of colorectal cancer
}}

{{PMID Auto
|PMID=19793853
|Title=Postprandial responses in hunger and satiety are associated with the rs9939609 single nucleotide polymorphism in FTO
}}
{{PMID Auto
|PMID=19818126
|Title=Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study
|OA=1
}}

{{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=20517895
|Title=Genetic variations of leptin and leptin receptor are associated with body composition changes in response to physical training
}}
{{PMID Auto
|PMID=20562674
|Title=Association between LEP and LEPR gene polymorphisms and dyslipidemia in patients using atypical antipsychotic medication
}}
{{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=21510767
|Title=Polymorphisms of the LEP-, LEPR and HTR2C gene: obesity and BMI change in patients using antipsychotic medication in a naturalistic setting
}}

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

{{ClinVar
|rsid=1137101
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=65592830
|CHROM=1
|GMAF=0.4107
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000a0517051f110100
|GENEINFO=LEPR:3953
|GENE_NAME=LEPR
|GENE_ID=3953
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.65592830A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.4105; 0.5895
|CLNACC=RCV000009047.1
|CLNDBN=LEPTIN RECEPTOR POLYMORPHISM
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001003679.3:c.668A>G; 601007.0001
|COMMON=1
|Disease=LEPTIN RECEPTOR POLYMORPHISM
}}

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

{{PMID Auto
|PMID=18700015
|Title=Linkage study of fibrinogen levels: the Strong Heart Family Study.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19427969
|Title=LEPR p.Q223R Polymorphism influences plasma leptin levels and body mass index in Tunisian obese patients.
}}

{{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=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=21233812
|Title=ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese.
}}

{{PMID Auto
|PMID=21390334
|Title=Genetic polymorphisms in the hypothalamic pathway in relation to subsequent weight change--the DiOGenes study.
|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=21947707
|Title=Leptin and leptin receptor genes in relation to premenopausal breast cancer incidence and grade in Caucasian women.
|OA=1
}}

{{GET Evidence
|gene=LEPR
|aa_change=Gln223Arg
|aa_change_short=Q223R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1137101
|overall_frequency_n=5233
|overall_frequency_d=10758
|overall_frequency=0.486429
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=69
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.484
|genetests_testable=Y
|nblosum100=0
|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=23284729
|Title=Aerobic Fitness Does Not Modify the Effect of FTO Variation on Body Composition Traits
|OA=1
}}

{{PMID Auto
|PMID=24146750
|Title=Association of LEP G2548A and LEPR Q223R Polymorphisms with Cancer Susceptibility: Evidence from a Meta-Analysis
|OA=1
}}

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

{{PMID Auto
|PMID=22426215
|Title=Association study of polymorphisms in leptin and leptin receptor genes with antipsychotic-induced body weight gain.
}}

{{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=23009903
|Title=A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients.
}}

{{PMID Auto
|PMID=23026206
|Title=The leptin receptor Gln223Arg polymorphism (rs1137101) mediates the postprandial lipaemic response, but only in males.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}