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From SNPedia

Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 1.25 Slight increase in obesity and T2DM risk
(G;G) 1.5 Slight increase in obesity and T2DM risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs1137101
1000 genomesrs1137101
GWAS Ctlgrs1137101
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28

rs1137101, also known as c.668A>G, p.Gln223Arg, Arg223Gln, R223Q and Q223R, represents a very common variant in the LEPR gene on chromosome 1. The rs1137101(A) allele encodes the Gln/Q codon; the (G) allele encodes the Arg/R allele. The most common allele varies somewhat depending on the population.

A 2016 meta-analysis of 11 studies (~5000 cases in total) concludes that the rs1137101(G) allele is significantly associated with type-2 diabetes, with an odds ratio of about 1.2 - 1.8 (depending on the inheritance model).[PMID 27195302OA-icon.png]

[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.


[PMID 19273568] Genetic variation in adipokine genes and risk of colorectal cancer

[PMID 19793853] Postprandial responses in hunger and satiety are associated with the rs9939609 single nucleotide polymorphism in FTO

[PMID 19818126OA-icon.png] Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study

[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 20517895] Genetic variations of leptin and leptin receptor are associated with body composition changes in response to physical training

[PMID 20562674] Association between LEP and LEPR gene polymorphisms and dyslipidemia in patients using atypical antipsychotic medication

[PMID 20167575OA-icon.png] 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 21510767] Polymorphisms of the LEP-, LEPR and HTR2C gene: obesity and BMI change in patients using antipsychotic medication in a naturalistic setting

[PMID 21516303OA-icon.png] Common genetic variation in adiponectin, leptin, and leptin receptor and association with breast cancer subtypes

Risk Rs1137101(G;G)
Alt Rs1137101(G;G)
Reference Rs1137101(A;A)
Significance Non-pathogenic
Disease LEPTIN RECEPTOR POLYMORPHISM Monogenic Non-Syndromic Obesity Leptin receptor deficiency
Variation info
CLNDBN LEPTIN RECEPTOR POLYMORPHISM Monogenic Non-Syndromic Obesity Leptin receptor deficiency
Reversed 0
HGVS NC_000001.10:g.66058513A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009047.3, RCV000281795.1, RCV000348520.1,

[PMID 18059035OA-icon.png] Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.

[PMID 18212354OA-icon.png] Genes in glucose metabolism and association with spina bifida.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18700015OA-icon.png] Linkage study of fibrinogen levels: the Strong Heart Family Study.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19427969] LEPR p.Q223R Polymorphism influences plasma leptin levels and body mass index in Tunisian obese patients.

[PMID 20149225OA-icon.png] Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21233812] ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese.

[PMID 21390334OA-icon.png] Genetic polymorphisms in the hypothalamic pathway in relation to subsequent weight change--the DiOGenes study.

[PMID 21393862OA-icon.png] A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.

[PMID 21947707OA-icon.png] Leptin and leptin receptor genes in relation to premenopausal breast cancer incidence and grade in Caucasian women.

[PMID 23278404] The impact of LEPR variants on risk of non-alcoholic fatty liver disease and its interaction with PNPLA3 variant

[PMID 23284729OA-icon.png] Aerobic Fitness Does Not Modify the Effect of FTO Variation on Body Composition Traits

[PMID 24146750OA-icon.png] Association of LEP G2548A and LEPR Q223R Polymorphisms with Cancer Susceptibility: Evidence from a Meta-Analysis

[PMID 24468228] Leptin Signaling and Hyperparathyroidism: Clinical and Genetic Associations

[PMID 22426215] Association study of polymorphisms in leptin and leptin receptor genes with antipsychotic-induced body weight gain.

[PMID 22975643OA-icon.png] 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 23009903] 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 23026206] The leptin receptor Gln223Arg polymorphism (rs1137101) mediates the postprandial lipaemic response, but only in males.

[PMID 25740917OA-icon.png] Association of LEPR and ANKK1 gene polymorphisms with weight gain in epilepsy patients receiving valproic acid

[PMID 25810718OA-icon.png] Polymorphism in LEP and LEPR May Modify Leptin Levels and Represent Risk Factors for Thyroid Cancer

[PMID 25863476] The association between LEPR Q223R polymorphisms and breast cancer risk

[PMID 25923461OA-icon.png] IGF2, LEPR, POMC, PPARG, and PPARGC1 gene variants are associated with obesity-related risk phenotypes in Brazilian children and adolescents

[PMID 26192702] ADIPOQ-11377C>G Polymorphism Increases Risk of Adipokine Abnormalities and Child Obesity Regardless of Dietary Intake

[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 27457563OA-icon.png] Association of rs1137101 polymorphism in LEPR and susceptibility to knee osteoarthritis in a Northwest Chinese Han population.

[PMID 29241578] Polymorphisms in the leptin (rs7799039) gene are associated with an increased risk of excessive gestational weight gain but not with leptin concentration during pregnancy.

[PMID 29412799] Correlation between serum leptin and its gene expression to the anthropometric measures in overweight and obese children.

[PMID 29903247] [Relationship of diabetes mellitus in older Han adults in China with leptin receptor gene rs1137100 and rs1137101 polymorphrism].

[PMID 31021458] Leptin -2548 G/A polymorphisms are associated to clinical progression of oral cancer and sensitive to oral tumorization in nonsmoking population.

[PMID 31948470OA-icon.png] Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans.

[PMID 32774722OA-icon.png] Investigation of Leptin and its receptor (LEPR) for single nucleotide polymorphisms in colorectal cancer: a case-control study involving 2,306 subjects.

[PMID 32983895OA-icon.png] Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation.