rs2229616
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.1 | lower risk of metabolic syndrome |
| (A;G) | 2 | lower risk of metabolic syndrome |
| (G;G) | 0 | normal |
| (G;G) | 2 | lower BMI; decreased obesity risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 60372043 |
| Gene | MC4R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229616 |
| dbSNP (classic) | rs2229616 |
| ClinGen | rs2229616 |
| ebi | rs2229616 |
| HLI | rs2229616 |
| Exac | rs2229616 |
| Gnomad | rs2229616 |
| Varsome | rs2229616 |
| LitVar | rs2229616 |
| Map | rs2229616 |
| PheGenI | rs2229616 |
| Biobank | rs2229616 |
| 1000 genomes | rs2229616 |
| hgdp | rs2229616 |
| ensembl | rs2229616 |
| geneview | rs2229616 |
| scholar | rs2229616 |
| rs2229616 | |
| pharmgkb | rs2229616 |
| gwascentral | rs2229616 |
| openSNP | rs2229616 |
| 23andMe | rs2229616 |
| SNPshot | rs2229616 |
| SNPdbe | rs2229616 |
| MSV3d | rs2229616 |
| GWAS Ctlg | rs2229616 |
| GMAF | 0.01928 |
| Max Magnitude | 2.1 |
| ? | (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 14973783
] Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.
[PMID 17357083] 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 18377640] Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia.
[PMID 18454148] Common variants near MC4R are associated with fat mass, weight and risk of obesity.
[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 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.
[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 Monogenic diabetes |
| Variation | info |
| Gene | MC4R |
| CLNDBN | Obesity Monogenic diabetes |
| Reversed | 1 |
| HGVS | NC_000018.9:g.58039276C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000202600.2, RCV000445452.1, |
