rs17782313
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.5 | adults likely to be 0.44 BMI units higher |
| (C;T) | 2 | adults likely to be 0.22 BMI units higher |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 60183864 |
| Gene | MC4R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17782313 |
| dbSNP (classic) | rs17782313 |
| ClinGen | rs17782313 |
| ebi | rs17782313 |
| HLI | rs17782313 |
| Exac | rs17782313 |
| Gnomad | rs17782313 |
| Varsome | rs17782313 |
| LitVar | rs17782313 |
| Map | rs17782313 |
| PheGenI | rs17782313 |
| Biobank | rs17782313 |
| 1000 genomes | rs17782313 |
| hgdp | rs17782313 |
| ensembl | rs17782313 |
| geneview | rs17782313 |
| scholar | rs17782313 |
| rs17782313 | |
| pharmgkb | rs17782313 |
| gwascentral | rs17782313 |
| openSNP | rs17782313 |
| 23andMe | rs17782313 |
| SNPshot | rs17782313 |
| SNPdbe | rs17782313 |
| MSV3d | rs17782313 |
| GWAS Ctlg | rs17782313 |
| GMAF | 0.2213 |
| Max Magnitude | 2.5 |
| ? | (C;C) (C;T) (T;T) | 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 10-15).[PMID 18454148
]
Note that rs10871777 is considered an equivalent SNP in Caucasian and Asian populations. The rs17782313(C) allele is equivalent to the rs10871777(G) allele.[1]
[PMID 18697794] 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] obesity and type-2 diabetes
| GWAS | |
|---|---|
| SNP | rs17782313 |
| PubMedID | [PMID 18454148]
|
| Condition | Body mass index |
| Gene | MC4R |
| Risk Allele | C |
| pValue | 3.00E-015 |
| OR | 0.05 |
| 95% CI | 0.04-0.06) unit increase in log(BMI |
[PMID 19265794] Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry
| GWAS snp | |
|---|---|
| PMID | [PMID 19151714] |
| Trait | Obesity |
| Title | Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations |
| Risk Allele | C |
| P-val | 5E-15 |
| Odds Ratio | 1.22 [1.05-1.40] |
| GWAS snp | |
|---|---|
| PMID | [PMID 19079261]
|
| Trait | Body mass index |
| Title | Six new loci associated with body mass index highlight a neuronal influence on body weight regulation |
| Risk Allele | C |
| P-val | 5E-18 |
| Odds Ratio | 0.20 [0.12-0.28] kg/m2 increase |
[PMID 24066140] Common Genetic Variation near MC4R Has a Sex-Specific Impact on Human Brain Structure and Eating Behavior
[PMID 20061430] Obesity Susceptibility Genetic Variants Identified from Recent Genome-Wide Association Studies: Implications in a Chinese Population
[PMID 19812171] Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies
[PMID 20181787] 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 20215774] Association between a Common Variant near MC4R and Change in Body Mass Index Develops by Two Weeks of Age
[PMID 20406574] Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior
[PMID 20070976] Common variants near melanocortin 4 receptor are associated with general and visceral adiposity in European- and African-American youth
[PMID 20966902] Genome-Wide Association Study of Anthropometric Traits and Evidence of Interactions With Age and Study Year in Filipino Women
[PMID 21085626] Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus
[PMID 20843981] Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children
[PMID 21773004] An Obesity Risk SNP (rs17782313) near the MC4R Gene Is Associated with Cerebrocortical Insulin Resistance in Humans
[PMID 21303735] Association study of MC4R with complex obesity and replication of the rs17782313 association signal
[PMID 21527513] Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity
| GWAS snp | |
|---|---|
| PMID | [PMID 20881960]
|
| Trait | |
| Title | Hundreds of variants clustered in genomic loci and biological pathways affect human height. |
| Risk Allele | T |
| P-val | 4E-11 |
| Odds Ratio | 0.0300 [NR] meters decrease |
[PMID 22421923] Associations of variants in FTO and near MC4R with obesity traits in South Asian Indians
[PMID 22563304] The Effect of Elevated Body Mass Index on Ischemic Heart Disease Risk: Causal Estimates from a Mendelian Randomisation Approach
[PMID 22083549] Study of eight GWAS-identified common variants for association with obesity-related indices in Chinese children at puberty
[PMID 18682847] Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes.
[PMID 19016587] How does body fat influence bone mass in childhood? A Mendelian randomization approach.
[PMID 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
[PMID 19073769] 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.
[PMID 19197348] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
[PMID 19255736] Combined effects of MC4R and FTO common genetic variants on obesity in European general populations.
[PMID 19470880] Does greater adiposity increase blood pressure and hypertension risk?: Mendelian randomization using the FTO/MC4R genotype.
[PMID 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
[PMID 19553259] Common body mass index-associated variants confer risk of extreme obesity.
[PMID 19557197] NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
[PMID 19629057] Impact of variation near MC4R on whole-body fat distribution, liver fat, and weight loss.
[PMID 19668254] Prognostic significance of FTO genotype in the development of obesity in Japanese: the J-SHIPP study.
[PMID 19750184] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
[PMID 19844209] Common variants near MC4R in relation to body fat, body fat distribution, metabolic traits and energy expenditure.
[PMID 19880856] Life course variations in the associations between FTO and MC4R gene variants and body size.
[PMID 20017980] A multilevel linear mixed model of the association between candidate genes and weight and body mass index using the Framingham longitudinal family data.
[PMID 20092643] 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).
[PMID 20127379] From monogenic to polygenic obesity: recent advances.
[PMID 20161779] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
[PMID 20520848] Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth.
[PMID 20616999] Usefulness of Mendelian randomization in observational epidemiology.
[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
[PMID 20725061] MC4R variant is associated with BMI but not response to resistance training in young females.
[PMID 20824172] Physical activity attenuates the genetic predisposition to obesity in 20,000 men and women from EPIC-Norfolk prospective population study.
[PMID 21063808] Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations.
[PMID 21147891] Genetic variants associated with persistent central obesity and the metabolic syndrome in a 12-year longitudinal study.
[PMID 21210875] 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 21283731] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
[PMID 21347432] The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women.
[PMID 21372613] Common variants near MC4R: exploring gender effects in overweight and obese children and adolescents participating in a lifestyle intervention.
[PMID 21593506] Maternal and offspring adiposity-related genetic variants and gestational weight gain.
[PMID 21688152] Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk.
[PMID 22310352] Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene.
[PMID 22350153] A Common variant near the melanocortin 4 receptor is associated with low-density lipoprotein cholesterol and total cholesterol in the Chinese Han population.
[PMID 22466342] beta2-adrenergic receptor Thr164Ile polymorphism, obesity, and diabetes: comparison with FTO, MC4R, and TMEM18 polymorphisms in more than 64,000 individuals.
[PMID 22511254] Susceptibility variants for obesity and colorectal cancer risk: The multiethnic cohort and PAGE studies.
[PMID 22614171] Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study.
[PMID 23049848] Association between Common Polymorphism near the MC4R Gene and Obesity Risk: A Systematic Review and Meta-Analysis
[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 23130628] 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
[PMID 23277235] Association of the Common MC4R rs17782313 Polymorphism With Antipsychotic-Related Weight Gain
[PMID 23431394] Rs4074134 near BDNF gene is associated with type 2 diabetes mellitus in chinese han population independently of body mass index
[PMID 23447422] A common variant in the FTO locus is associated with waist-hip ratio in Indian adolescents
[PMID 23424664] Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
[PMID 23151679] Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian population
[PMID 24269186] An obesity genetic risk score is associated with metabolic syndrome in Chinese children
[PMID 24385306] The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity
[PMID 24458996] Association of melanocortin 4 receptor gene variation with satiation and gastric emptying in overweight and obese adults
[PMID 22869321] Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals.
[PMID 23147118] Eating behaviour in obese patients with melanocortin-4 receptor mutations: a literature review.
[PMID 23201545] FTO and MC4R gene variants determine BMI changes in children after intensive lifestyle intervention.
[PMID 23318717] Sex-specific effects of weight-affecting gene variants in a life course perspective--The HUNT Study, Norway.
[PMID 23460509] Replication of genetic effects of MC4R polymorphisms on body mass index in a Korean population.
[PMID 23588626] Associations of obesity susceptibility loci with hypertension in Chinese children.
[PMID 23775818] Elevated body mass index as a causal risk factor for symptomatic gallstone disease: a Mendelian randomization study.
[PMID 23849767] Effects of FTO RS9939906 and MC4R RS17782313 on obesity, type 2 diabetes mellitus and blood pressure in patients with hypertension.
[PMID 24762112] Increased body mass index, elevated C-reactive protein, and short telomere length
[PMID 24880622] A polymorphism near MC4R gene (rs17782313) is associated with serum triglyceride levels in the general Japanese population: the J-MICC Study
[PMID 25492288] [Impact of obesity-related gene polymorphism on risk of obesity and metabolic disorder in childhood]
[PMID 25769385] The association of MC4R rs17782313 polymorphism with dietary intake in Iranian adults
[PMID 25948074] Associations between a common variant near the MC4R gene and serum triglyceride levels in an obese pediatric cohort
[PMID 25966591] [Association of polymorphic variants of FTO and MC4R genes with obesity in a Tatar population]
[PMID 26588347] Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults
[PMID 27377581] Association of the FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms with maternal body weight during pregnancy.
| ClinVar | |
|---|---|
| Risk | Rs17782313(C;C) |
| Alt | Rs17782313(C;C) |
| Reference | Rs17782313(T;T) |
| Significance | Drug-response |
| Disease | antipsychotics response - Toxicity/ADR |
| Variation | info |
| Gene | |
| CLNDBN | antipsychotics response - Toxicity/ADR |
| Reversed | 0 |
| HGVS | NC_000018.9:g.57851097T>C |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211281.1, |
[PMID 27829468] Fat mass obesity-associated (FTO) (rs9939609) and melanocortin 4 receptor (MC4R) (rs17782313) SNP are positively associated with obesity and blood pressure in Mexican school-aged children.
[PMID 29466028] Analysis of the Impact of Common Polymorphisms of the FTO and MC4R Genes with the Risk of Severe Obesity in Saudi Arabian Population.
[PMID 30671185] Evaluation of FTO rs9939609 and MC4R rs17782313 Polymorphisms as Prognostic Biomarkers of Obesity: A Population-based Cross-sectional Study.
[PMID 31429705] MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.
[PMID 31954858] Association between MC4R rs17782313 genotype and obesity: a meta-analysis.
[PMID 32109558] Implication of Genetic Variants in Overweight and Obesity susceptibility among the Young Arab Population of the United Arab Emirates.
[PMID 32770936] The MC4R SNPs, their haplotypes and gene-environment interactions on the risk of obesity.
[PMID 32807123] Association of MC4R (rs17782313) with diabetes and cardiovascular disease in Korean men and women.
[PMID 32899047] Association between polymorphism near the MC4R gene and cancer risk: A meta-analysis.
