Rs17782313
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17782313 |
| PheGenI | rs17782313 |
| nextbio | rs17782313 |
| hapmap | rs17782313 |
| 1000 genomes | rs17782313 |
| hgdp | rs17782313 |
| ensembl | rs17782313 |
| gopubmed | rs17782313 |
| geneview | rs17782313 |
| scholar | rs17782313 |
| rs17782313 | |
| pharmgkb | rs17782313 |
| gwascentral | rs17782313 |
| openSNP | rs17782313 |
| 23andMe | rs17782313 |
| 23andMe all | rs17782313 |
| SNP Nexus | |
| SNPshot | rs17782313 |
| SNPdbe | rs17782313 |
| MSV3d | rs17782313 |
| Gene | MC4R |
| Chromosome | 18 |
| Orientation | plus |
| GMAF | 0.2216 |
| Position | 57851097 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 2.5 |
| 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 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
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
- rs1121980
- rs7498665
- rs4752856
- rs17782313
- rs2815752
- rs10938397
| Neighbor | rs10871777 |
| Distance | 666 |
| 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 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
| GET Evidence | |
|---|---|
| rs17782313 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | |
| summary | |
[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
