rs12970134

plus

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

Reference

GRCh38 38.1/141

Chromosome

18

Position

60217517

Gene

MC4R

is a	snp
is	mentioned by
dbSNP	rs12970134
dbSNP (classic)	rs12970134
ClinGen	rs12970134
ebi	rs12970134
HLI	rs12970134
Exac	rs12970134
Gnomad	rs12970134
Varsome	rs12970134
LitVar	rs12970134
Map	rs12970134
PheGenI	rs12970134
Biobank	rs12970134
1000 genomes	rs12970134
hgdp	rs12970134
ensembl	rs12970134
geneview	rs12970134
scholar	rs12970134
google	rs12970134
pharmgkb	rs12970134
gwascentral	rs12970134
openSNP	rs12970134
23andMe	rs12970134
SNPshot	rs12970134
SNPdbe	rs12970134
MSV3d	rs12970134
GWAS Ctlg	rs12970134

GMAF

0.2011

Max Magnitude

0

?

(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

OMIM	601665
Desc	OBESITY
Variant
Related	also

OMIM	155541
Desc	MELANOCORTIN 4 RECEPTOR; MC4R
Variant
Related	also

[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 21085626 ] 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 18697794 ] 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 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 19265794 ] Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.

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

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

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

[PMID 21283731 ] 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 23049848 ] Association between Common Polymorphism near the MC4R Gene and Obesity Risk: A Systematic Review and Meta-Analysis

[PMID 23512951 ] 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 23408508 ] 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 25093408 ] Obesity-Related Genomic Loci Are Associated with Type 2 Diabetes in a Han Chinese Population

GWAS snp
PMID	[PMID 24509480 ]
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 25951451 ] 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.

[PMID 31429705 ] MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.

[PMID 32228543 ] Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients.

[PMID 32740722 ] Role of FTO and MC4R Polymorphisms in Escalating Obesity and Their Indirect Association With Risk of T2D in Indian Population.

[PMID 32770936 ] The MC4R SNPs, their haplotypes and gene-environment interactions on the risk of obesity.

[PMID 32899047 ] Association between polymorphism near the MC4R gene and cancer risk: A meta-analysis.