MC4R V103I - GET-Evidence

Curation:
Currentness:

MC4R V103I

(MC4R Val103Ile)


Short summary

This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals.

Variant evidence
Computational -
Functional -
Case/Control 1

OR=1.27, P=0.0001

See Wang D et al. 2010 (19696756).

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain protective

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr18:58039276: 1.6% (174/10758) in EVS
  • T @ chr18:56190255: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (174/10758)

Publications
 

Wang D, Ma J, Zhang S, Hinney A, Hebebrand J, Wang Y, Wang HJ. Association of the MC4R V103I polymorphism with obesity: a Chinese Case-control study and meta-analysis in 55,195 individuals. Obesity (Silver Spring). 2010 Mar;18(3):573-9. Epub 2009 Aug 20. PubMed PMID: 19696756.

The authors performed a large meta-analysis of the six East Asian studies and 31 studies of other ethnic groups, involving 55,195 individuals with 19,822 obese cases and 35,373 nonobese controls. In total, the individuals with I103 allele had a 21% lower risk for obesity (OR = 0.79, 95% CI: 0.71-0.88, P < 0.0001)

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr18:58039276

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr18:56190256

 

Other external references
 

    dbSNP
  • rs2229616
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Cardiovascular Diseases; Obesity]
    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.
    www.ncbi.nlm.nih.gov/pubmed/15805150; PubMed ID:16278267; PubMed ID:17356525
    PolyPhen-2
  • Score: 0.014 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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