From SNPedia
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]
| ? | (A;G) (G;G) |
|---|
 |
| PharmGKB | PA162355900 |
| Name | MC4R: V103I |
| Annotation | A study in 1173 consecutive patients undergoing cardiac catheterization found that heterozygous carriers of the MC4R 103I allele had significantly lower triglyceride levels than individuals homozygous for the wild-type allele. Other studies report that the MC4R V103I polymorphism was associated with body weight regulation. |
| Gene | MC4R |
| Featue | |
| Evidence | PubMed ID:15805150; PubMed ID:16278267; PubMed ID:17356525 |
| Drugs | |
| Diseases | Cardiovascular Diseases, Obesity |
| Curation Level | Curated |
