Normal variation in leptin levels is associated with polymorphisms in the proopiomelanocortin gene, POMC

James E. Hixson, Laura Almasy, Shelley Cole, Shifra Birnbaum, Braxton D. Mitchell, Michael C. Mahaney, Michael P. Stern, Jean W. Maccluer, John Blangero, Anthony G. Comuzzie

Research output: Contribution to journalArticlepeer-review

115 Scopus citations


We previously reported that our genome-scanning initiative had detected a highly significant linkage (log odds ratio = 4.95; P = 9 <x> 10-7) between a quantitative trait locus (QTL) on chromosome 2 and leptin levels in Mexican American families. We now have typed additional microsatellite markers in this region, increasing this log odds ratio score to 7.46 (P = 2 <x> 10-9). This region of chromosome 2 contains a strong positional candidate gene, POMC. The POMC gene codes for POMC, the prohormone from which αMSH, ACTH, and β-endorphin are derived. Studies by others have shown that POMC derived products are involved in the regulation of appetite and obesity. We have used polymorphisms in POMC to map its location within the 95% confidence interval of the peak for the linkage signal for the QTL. We also constructed POMC haplotypes using these polymorphisms and have found a significant association with normal variation in leptin levels (P = 0.001). We conclude that variation in POMC is associated with normal variation in serum leptin levels, providing further evidence that POMC may be the leptin QTL previously identified in Mexican American families.

Original languageEnglish (US)
Pages (from-to)3187-3191
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Issue number9
StatePublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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