RGD Reference Report - Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population. - Rat Genome Database

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Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population.

Authors: Chen, Y  Snieder, H  Wang, X  Kaviya, B  McCaffrey, C  Spector, TD  Carter, ND  O'Dell, SD 
Citation: Chen Y, etal., Eur J Hum Genet. 2005 Jun;13(6):772-80.
RGD ID: 1601429
Pubmed: PMID:15812563   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.ejhg.5201407   (Journal Full-text)

A major quantitative trait locus (QTL) determining leptin levels has been linked to the proopiomelanocortin (POMC) region on chromosome 2. Most studies, based on under 350 lean or obese subjects, have shown no association between POMC SNP 8246 C/T and serum leptin, but significant associations have been reported with RsaI 8246 C/T SNP haplotypes. We have investigated association of four POMC SNPs with body composition and serum leptin in 2758 normal Caucasian female subjects (mean age 47.4+/-12.5 years), from the St Thomas' UK Adult Twin Registry (Twins UK): RsaI and 51 G/C in the 5'UTR and 8246 C/T and 7965 C/T in the 3'UTR. Under the recessive model, the 8246 T allele (freq. 0.18) was significantly associated with higher mean BMI (P=0.032) and total fat (P=0.046, both after age adjustment). Significant associations were maintained in sib-TDT with waist (P=0.049), total fat (P=0.037) and emerged with serum leptin (P=0.016). Initial significant associations between RsaI (-) allele (freq. 0.30) and higher waist (P=0.04) or % central fat (P=0.02) were not maintained in sib-TDT. No significant associations were found between body composition or serum leptin and RsaI/8246 C/T haplotype and none with 51 G/C (freq. 0.01) or 7965 C/T (freq. 0.004). There was minimal pairwise LD between the four loci, apart from RsaI and 8246 C/T (D'=-0.78 (P<0.0001)). Associations of BMI, weight and total fat with SNPs in regions flanking the POMC gene in this powerful study suggest that regulation of POMC expression may be influential in determining body weight.

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Increased body fat percentage  IAGP 1601429increased total body fat and DNA:SNP:3' utr:8246C>T (rs1042571) (human)RGD 
Increased body mass index  IAGP 1601429DNA:SNP:3' utr:8246C>T (rs1042571) (human)RGD 
Increased serum leptin  IAGP 1601429DNA:SNP:3' utr:8246C>T (rs1042571) (human)RGD 
Increased waist to hip ratio  IAGP 1601429increased waist diameter and DNA:SNP:3' utr:8246C>T (rs1042571) (human)RGD 
Objects Annotated

Genes (Homo sapiens)
POMC  (proopiomelanocortin)


Additional Information