{{Rsnum
|rsid=17782313
|Gene=MC4R
|Chromosome=18
|position=60183864
|Orientation=plus
|GMAF=0.2213
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 3.5 | 46.0 | 50.4
| HCB | 2.9 | 32.8 | 64.2
| JPT | 7.1 | 39.8 | 53.1
| YRI | 8.8 | 41.5 | 49.7
| ASW | 7.0 | 40.4 | 52.6
| CHB | 2.9 | 32.8 | 64.2
| CHD | 2.8 | 28.4 | 68.8
| GIH | 7.9 | 42.6 | 49.5
| LWK | 5.5 | 45.0 | 49.5
| MEX | 3.5 | 22.8 | 73.7
| MKK | 3.8 | 34.0 | 62.2
| TSI | 8.8 | 42.2 | 49.0
| HapMapRevision=28
}}A study of 60,000 adults indicates that [[rs17782313]](C) alleles are associated with higher body mass index (BMI), with even greater effect in children. The average increase in BMI is 0.22 BMI units (p = 2.8 x 10<sup>-15</sup>).{{PMID|18454148|OA=1
}}

Note that [[rs10871777]] is considered an equivalent SNP in Caucasian and Asian populations. The [[rs17782313]](C) allele is equivalent to the [[rs10871777]](G) allele.[http://blog.23andme.com/2008/05/04/snpwatch-mc4r-gene-associated-with-body-mass/]

{{PMID|18697794|OA=1
}} The [[rs17782313]](C) allele is significantly associated with higher intakes of total energy and dietary fat. In addition, the SNP was related to greater long-term weight change and increased risk of diabetes in women.

{{PMID|19153581}} [[rs17782313]](C) more snacking, however [[rs1421085]](C) did not influence eating behavior

{{PMID|19164386|OA=1
}} [[obesity]] and [[type-2 diabetes]]
*[[rs1121980]]
*[[rs7498665]]
*[[rs4752856]]
*[[rs17782313]]
*[[rs2815752]] 
*[[rs10938397]]

{{ neighbor
| rsid = 10871777
| distance = 666
}}

{{GWAS Summary
|SNP=rs17782313
|PubMedID=18454148
|Condition=Body mass index
|Gene=MC4R
|Risk Allele=C
|pValue=3.00E-015
|OR=0.05
|95CI=0.04-0.06) unit increase in log(BMI
|OA=1
}}
{{PMID Auto
|PMID=19265794
|Title=Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry
|OA=1
}}

{{PMID Auto GWAS
|PMID=19151714
|Trait=Obesity
|Title=Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
|RiskAllele=C
|Pval=5E-15
|OR=1.22
|ORtxt=[1.05-1.40]
}}
{{PMID Auto GWAS
|PMID=19079261
|Trait=Body mass index
|Title=Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
|RiskAllele=C
|Pval=5E-18
|OR=0.20
|ORtxt=[0.12-0.28] kg/m2 increase
|OA=1
}}

{{omim
|desc=OBESITY
|id=601665
|rsnum=17782313
}}

{{omim
|desc=MELANOCORTIN 4 RECEPTOR; MC4R
|id=155541
|rsnum=17782313
}}

{{PharmGKB
|RSID=rs17782313
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19079261; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. (Initial Sample Size: 32,387 individuals; Replication Sample Size: 59,092 individuals); (Region: 18q21.32; Reported Gene(s): MC4R; Risk Allele: rs17782313-C); (p-value= 0.000000000000000005).This variant is associated with Body mass index.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740184
}}
{{PMID Auto
|PMID=24066140
|Title=Common Genetic Variation near MC4R Has a Sex-Specific Impact on Human Brain Structure and Eating Behavior
|OA=1
}}
{{PMID Auto
|PMID=20061430
|Title=Obesity Susceptibility Genetic Variants Identified from Recent Genome-Wide Association Studies: Implications in a Chinese Population
}}
{{PMID Auto
|PMID=19812171
|Title=Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies
}}

{{PMID Auto
|PMID=20181787
|Title=A Variant in the Fat Mass and Obesity-Associated Gene (FTO) and Variants near the Melanocortin-4 Receptor Gene (MC4R) Do Not Influence Dietary Intake
}}

{{PMID Auto
|PMID=20215774
|Title=Association between a Common Variant near MC4R and Change in Body Mass Index Develops by Two Weeks of Age
}}

{{PMID Auto
|PMID=20406574
|Title=Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior
}}
{{PMID Auto
|PMID=20070976
|Title=Common variants near melanocortin 4 receptor are associated with general and visceral adiposity in European- and African-American youth
|OA=1
}}
{{PMID Auto
|PMID=20966902
|Title=Genome-Wide Association Study of Anthropometric Traits and Evidence of Interactions With Age and Study Year in Filipino Women
|OA=1
}}

{{PharmGKB
|RSID=rs17782313
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18454148; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Common variants near MC4R are associated with fat mass, weight and risk of obesity (Initial Sample Size: 16,876 individuals; Replication Sample Size: 60,352 individuals; Risk Allele: rs17782313-C). This variant is associated with Body mass index.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356421
}}

{{PharmGKB
|RSID=rs17782313
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19151714; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. (Initial Sample Size: 695 obese adults, 685 obese children, 731 lean adults, 685 lean children; Replication Sample Size: 1,171 obese adults, 896 obese children, 1,114 lean adults, 1,297 lean children, 4,417 adults, 5,291 children); (Region: 18q21.32; Reported Gene(s): MC4R; Risk Allele: rs17782313-C); (p-value= 0.000000000000005).This variant is associated with Obesity.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740070
}}

{{PharmGKB
|RSID=rs17782313
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19174833
|Annotation=The analyses of genome-wide association data from 1,380 Europeans with early-onset and morbid adult obesity and 1,416 age-matched normal-weight controls found a strong association of this variant (rs17782313) downstream of the MC4R for risk of pooled childhood and adult severe obesity.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Curated
|PharmGKB Accession ID=PA162565810
}}
{{PMID Auto
|PMID=21085626
|Title=Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus
|OA=1
}}
{{PMID Auto
|PMID=20843981
|Title=Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children
|OA=1
}}

{{PMID Auto
|PMID=21773004
|Title=An Obesity Risk SNP (rs17782313) near the MC4R Gene Is Associated with Cerebrocortical Insulin Resistance in Humans
|OA=1
}}

{{PMID Auto
|PMID=21303735
|Title=Association study of MC4R with complex obesity and replication of the rs17782313 association signal
}}

{{PMID Auto
|PMID=21527513
|Title=Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity
}}

{{PMID Auto GWAS
|PMID=20881960
|Trait=None
|Title=Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|RiskAllele=T
|Pval=4E-11
|OR=0.0300
|ORtxt=[NR] meters decrease
|OA=1
}}

{{PMID Auto
|PMID=22421923
|Title=Associations of variants in FTO and near MC4R with obesity traits in South Asian Indians
}}

{{PMID Auto
|PMID=22563304
|Title=The Effect of Elevated Body Mass Index on Ischemic Heart Disease Risk: Causal Estimates from a Mendelian Randomisation Approach
|OA=1
}}

{{PMID Auto
|PMID=22083549
|Title=Study of eight GWAS-identified common variants for association with obesity-related indices in Chinese children at puberty
}}

{{PMID Auto
|PMID=18682847
|Title=Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes.
|OA=1
}}

{{PMID Auto
|PMID=19016587
|Title=How does body fat influence bone mass in childhood? A Mendelian randomization approach.
|OA=1
}}

{{PMID Auto
|PMID=19060910
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
|OA=1
}}

{{PMID Auto
|PMID=19073769
|Title=Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes.
|OA=1
}}

{{PMID Auto
|PMID=19197348
|Title=Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
|OA=1
}}

{{PMID Auto
|PMID=19255736
|Title=Combined effects of MC4R and FTO common genetic variants on obesity in European general populations.
}}

{{PMID Auto
|PMID=19470880
|Title=Does greater adiposity increase blood pressure and hypertension risk?: Mendelian randomization using the FTO/MC4R genotype.
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19553259
|Title=Common body mass index-associated variants confer risk of extreme obesity.
|OA=1
}}

{{PMID Auto
|PMID=19557197
|Title=NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
|OA=1
}}

{{PMID Auto
|PMID=19629057
|Title=Impact of variation near MC4R on whole-body fat distribution, liver fat, and weight loss.
}}

{{PMID Auto
|PMID=19668254
|Title=Prognostic significance of FTO genotype in the development of obesity in Japanese: the J-SHIPP study.
}}

{{PMID Auto
|PMID=19750184
|Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
|OA=1
}}

{{PMID Auto
|PMID=19844209
|Title=Common variants near MC4R in relation to body fat, body fat distribution, metabolic traits and energy expenditure.
}}

{{PMID Auto
|PMID=19880856
|Title=Life course variations in the associations between FTO and MC4R gene variants and body size.
|OA=1
}}

{{PMID Auto
|PMID=20017980
|Title=A multilevel linear mixed model of the association between candidate genes and weight and body mass index using the Framingham longitudinal family data.
|OA=1
}}

{{PMID Auto
|PMID=20092643
|Title=Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS).
|OA=1
}}

{{PMID Auto
|PMID=20127379
|Title=From monogenic to polygenic obesity: recent advances.
|OA=1
}}

{{PMID Auto
|PMID=20161779
|Title=Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
|OA=1
}}

{{PMID Auto
|PMID=20520848
|Title=Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth.
|OA=1
}}

{{PMID Auto
|PMID=20616999
|Title=Usefulness of Mendelian randomization in observational epidemiology.
|OA=1
}}

{{PMID Auto
|PMID=20712903
|Title=Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
|OA=1
}}

{{PMID Auto
|PMID=20725061
|Title=MC4R variant is associated with BMI but not response to resistance training in young females.
}}

{{PMID Auto
|PMID=20824172
|Title=Physical activity attenuates the genetic predisposition to obesity in 20,000 men and women from EPIC-Norfolk prospective population study.
|OA=1
}}

{{PMID Auto
|PMID=21063808
|Title=Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations.
}}

{{PMID Auto
|PMID=21147891
|Title=Genetic variants associated with persistent central obesity and the metabolic syndrome in a 12-year longitudinal study.
}}

{{PMID Auto
|PMID=21210875
|Title=Using genetic loci to understand the relationship between adiposity and psychological distress: a Mendelian Randomization study in the Copenhagen General Population Study of 53,221 adults.
}}

{{PMID Auto
|PMID=21283731
|Title=FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
|OA=1
}}

{{PMID Auto
|PMID=21347432
|Title=The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women.
|OA=1
}}

{{PMID Auto
|PMID=21372613
|Title=Common variants near MC4R: exploring gender effects in overweight and obese children and adolescents participating in a lifestyle intervention.
}}

{{PMID Auto
|PMID=21593506
|Title=Maternal and offspring adiposity-related genetic variants and gestational weight gain.
|OA=1
}}

{{PMID Auto
|PMID=21688152
|Title=Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=22310352
|Title=Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene.
}}

{{PMID Auto
|PMID=22350153
|Title=A Common variant near the melanocortin 4 receptor is associated with low-density lipoprotein cholesterol and total cholesterol in the Chinese Han population.
}}

{{PMID Auto
|PMID=22466342
|Title=beta2-adrenergic receptor Thr164Ile polymorphism, obesity, and diabetes: comparison with FTO, MC4R, and TMEM18 polymorphisms in more than 64,000 individuals.
}}

{{PMID Auto
|PMID=22511254
|Title=Susceptibility variants for obesity and colorectal cancer risk: The multiethnic cohort and PAGE studies.
|OA=1
}}

{{PMID Auto
|PMID=22614171
|Title=Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study.
|OA=1
}}

{{PMID Auto
|PMID=23049848
|Title=Association between Common Polymorphism near the MC4R Gene and Obesity Risk: A Systematic Review and Meta-Analysis
|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
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17782313
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23130628
|Title=Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to the Mediterranean diet pattern is low
|OA=1
}}

{{PMID Auto
|PMID=23277235
|Title=Association of the Common MC4R rs17782313 Polymorphism With Antipsychotic-Related Weight Gain
}}

{{PMID Auto
|PMID=23431394
|Title=Rs4074134 near BDNF gene is associated with type 2 diabetes mellitus in chinese han population independently of body mass index
|OA=1
}}

{{PMID Auto
|PMID=23447422
|Title=A common variant in the FTO locus is associated with waist-hip ratio in Indian adolescents
}}

{{PMID Auto
|PMID=23424664
|Title=Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
|OA=1
}}

{{PMID Auto
|PMID=23151679
|Title=Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian population
}}

{{PMID Auto
|PMID=24269186
|Title=An obesity genetic risk score is associated with metabolic syndrome in Chinese children
}}

{{PMID Auto
|PMID=24385306
|Title=The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity
}}

{{PMID Auto
|PMID=24458996
|Title=Association of melanocortin 4 receptor gene variation with satiation and gastric emptying in overweight and obese adults
|OA=1
}}

{{PMID Auto
|PMID=22869321
|Title=Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals.
}}

{{PMID Auto
|PMID=23147118
|Title=Eating behaviour in obese patients with melanocortin-4 receptor mutations: a literature review.
}}

{{PMID Auto
|PMID=23201545
|Title=FTO and MC4R gene variants determine BMI changes in children after intensive lifestyle intervention.
}}

{{PMID Auto
|PMID=23318717
|Title=Sex-specific effects of weight-affecting gene variants in a life course perspective--The HUNT Study, Norway.
}}

{{PMID Auto
|PMID=23460509
|Title=Replication of genetic effects of MC4R polymorphisms on body mass index in a Korean population.
}}

{{PMID Auto
|PMID=23588626
|Title=Associations of obesity susceptibility loci with hypertension in Chinese children.
}}

{{PMID Auto
|PMID=23775818
|Title=Elevated body mass index as a causal risk factor for symptomatic gallstone disease: a Mendelian randomization study.
}}

{{PMID Auto
|PMID=23849767
|Title=Effects of FTO RS9939906 and MC4R RS17782313 on obesity, type 2 diabetes mellitus and blood pressure in patients with hypertension.
|OA=1
}}

{{PMID Auto
|PMID=24762112
|Title=Increased body mass index, elevated C-reactive protein, and short telomere length
}}

{{PMID Auto
|PMID=24880622
|Title=A polymorphism near MC4R gene (rs17782313) is associated with serum triglyceride levels in the general Japanese population: the J-MICC Study
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}