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rs12970134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) adult waist 1.8cm larger on average
(A;G) adult waist 0.9cm larger on average
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome18
Position60217517
GeneMC4R
is asnp
is mentioned by
dbSNPrs12970134
ebirs12970134
HLIrs12970134
Exacrs12970134
Varsomers12970134
Maprs12970134
PheGenIrs12970134
hapmaprs12970134
1000 genomesrs12970134
hgdprs12970134
ensemblrs12970134
gopubmedrs12970134
geneviewrs12970134
scholarrs12970134
googlers12970134
pharmgkbrs12970134
gwascentralrs12970134
openSNPrs12970134
23andMers12970134
23andMe allrs12970134
SNP Nexus

SNPshotrs12970134
SNPdbers12970134
MSV3drs12970134
GWAS Ctlgrs12970134
GMAF0.2011
Max Magnitude0
? (A;A) (A;G) (G;G) 28
A study of 14,000 Indian Asian or Caucasian adults indicates that rs12970134(A) alleles are associated with obesity. The average increase in waist circumference is 0.9cm BMI units per risk allele. [PMID 18454146] see also [1]
GWAS
SNP rs12970134
PubMedID [PMID 18454146]
Condition Waist circumference and related phenotypes
Gene MC4R
Risk Allele A
pValue 2.00E-009
OR 0.88
95% CI 0.59-1.17) cm increas


GWAS snp
PMID [PMID 19079260]
Trait Body mass index
Title Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
Risk Allele A
P-val 1E-12
Odds Ratio 4.38 [3.16-5.60] % SD
OMIM601665
DescOBESITY
Variant
Relatedalso
OMIM155541
DescMELANOCORTIN 4 RECEPTOR; MC4R
Variant
Relatedalso

[PMID 19680233] Replication of Association Between a Common Variant Near Melanocortin-4 Receptor Gene and Obesity-related Traits in Asian Sikhs



[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 24670271] Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children



[PMID 21085626OA-icon.png] Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus


[PMID 21625854] Implication of genetic variants near TMEM18, BCDIN3D/FAIM2, and MC4R with coronary artery disease and obesity in Chinese: a angiography-based study

[PMID 18697794OA-icon.png] The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women.

[PMID 19073769OA-icon.png] 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 19265794OA-icon.png] Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.

[PMID 19478790OA-icon.png] The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.

[PMID 20092643OA-icon.png] 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 20127379OA-icon.png] From monogenic to polygenic obesity: recent advances.

[PMID 20694148OA-icon.png] A genome-wide association study of the metabolic syndrome in Indian Asian men.

[PMID 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

[PMID 21283731OA-icon.png] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.

[PMID 21372613] Common variants near MC4R: exploring gender effects in overweight and obese children and adolescents participating in a lifestyle intervention.

[PMID 21736789] A variant near the melanocortin-4 receptor gene regulates postprandial lipid metabolism in a healthy Caucasian population.


[PMID 23049848OA-icon.png] Association between Common Polymorphism near the MC4R Gene and Obesity Risk: A Systematic Review and Meta-Analysis


GET Evidence
rs12970134
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.203125
summary



[PMID 23512951OA-icon.png] Variation at the melanocortin 4 receptor gene and response to weight-loss interventions in the diabetes prevention program


[PMID 23151679] Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian population


[PMID 23408508OA-icon.png] Obesity-susceptibility loci and the tails of the pediatric BMI distribution


[PMID 22869321] Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals.


[PMID 25093408OA-icon.png] Obesity-Related Genomic Loci Are Associated with Type 2 Diabetes in a Han Chinese Population

GWAS snp
PMID [PMID 24509480OA-icon.png]
Trait Type 2 diabetes
Title Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Risk Allele A
P-val 3E-8
Odds Ratio 1.08 [1.03-1.12]


[PMID 25951451OA-icon.png] Replication Study in a Japanese Population to Evaluate the Association between 10 SNP Loci, Identified in European Genome-Wide Association Studies, and Type 2 Diabetes


[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 27186233] The effect of interaction between Melanocortin-4 receptor polymorphism and dietary factors on the risk of metabolic syndrome.