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rs2229616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.1 lower risk of metabolic syndrome
(A;G) 2 lower risk of metabolic syndrome
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome18
Position60372043
GeneMC4R
is asnp
is mentioned by
dbSNPrs2229616
ebirs2229616
HLIrs2229616
Exacrs2229616
Varsomers2229616
Maprs2229616
PheGenIrs2229616
hapmaprs2229616
1000 genomesrs2229616
hgdprs2229616
ensemblrs2229616
gopubmedrs2229616
geneviewrs2229616
scholarrs2229616
googlers2229616
pharmgkbrs2229616
gwascentralrs2229616
openSNPrs2229616
23andMers2229616
23andMe allrs2229616
SNP Nexus

SNPshotrs2229616
SNPdbers2229616
MSV3drs2229616
GWAS Ctlgrs2229616
GMAF0.01928
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
rs2229616, a variant in the MC4R gene known as V103I, has been associated with appetite regulation, body mass index (and thus obesity), and other features of metabolic syndrome.[PMID 18239646]

The most common allele is rs2229616(G); the rarer (A) allele encodes the 103I (isoleucine), and this (A) allele has been associated in a study of 8,000+ Caucasians with a significantly decreased waist circumference (-1.46 cm, p = 0.020), decreased glycosylated hemoglobin (HbA1c) (-0.09%, p = 0.040), and increased HDL-cholesterol (HDL-C) (+1.76 mg/dl, P = 0.056), but no change in blood pressure. The odds of having three or more components of the metabolic syndrome were substantially reduced among carriers of an rs2229616(A) allele (odds ratio = 0.46, p = 0.003). Basically, rs2229616(A) carriers are on average slightly leaner than rs2229616(G;G) homozygotes.[PMID 18239646]


[PMID 14973783OA-icon.png] Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.

[PMID 17357083OA-icon.png] Medical sequencing at the extremes of human body mass.

[PMID 17519222] Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.

[PMID 18377640OA-icon.png] Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia.

[PMID 18454148OA-icon.png] Common variants near MC4R are associated with fat mass, weight and risk of obesity.

[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 20530052] Melanocortin-4 receptor polymorphisms in Turkish pediatric obese patients.

[PMID 22020349] Polymorphisms of INSIG2, MC4R, and LEP are associated with obesity- and metabolic-related traits in schizophrenic patients.

[PMID 22310352] Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene.


GET Evidence
MC4R-V103I
aa_change Val103Ile
aa_change_short V103I
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.016174
summary This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals.



[PMID 22989167] Association of melanocortin-4 receptor gene polymorphisms with obesity-related parameters in Malaysian Malays.


ClinVar
Risk rs2229616(A;A)
Alt rs2229616(A;A)
Reference rs2229616(G;G)
Significance Other
Disease Obesity
Variation info
Gene MC4R
CLNDBN Obesity
Reversed 1
HGVS NC_000018.9:g.58039276C>T
CLNSRC
CLNACC RCV000202600.1,