A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2

Anthony G. Comuzzie, James E. Hixson, Laura Almasy, Braxton D. Mitchell, Michael C. Mahaney, Thomas D. Dyer, Michael P. Stern, Jean W. MacCluer, John Blangero

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    Abstract

    Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans have been found to be highly correlated with an individual's total adiposity. We performed a genome-wide scan and conducted multipoint linkage analysis using a general pedigree-based variance component approach to identify genes with measurable effects on quantitative variation in leptin levels in Mexican Americans. A microsatellite polymorphism, D2S1788, mapped to chromosome 2p21 (approximately 74 cM from the tip of the short arm) and showed strong evidence of linkage with serum leptin levels with a lod score of 4.95 (P = 9 x 10-7). This locus accounted for 47% of the variation in serum leptin levels, with a residual additive genetic component contributing an additional 24%. This region contains several potential candidate genes for obesity, including glucokinase regulatory protein (GCKR) end pro-opiomelanocortin (POMC). Our results show strong evidence of linkage of this region of chromosome 2 with serum leptin levels and indicate that this region could contain an important human obesity gene.

    Original languageEnglish (US)
    Pages (from-to)273-276
    Number of pages4
    JournalNature Genetics
    Volume15
    Issue number3
    DOIs
    StatePublished - Mar 1 1997

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    ASJC Scopus subject areas

    • Genetics

    Cite this

    Comuzzie, A. G., Hixson, J. E., Almasy, L., Mitchell, B. D., Mahaney, M. C., Dyer, T. D., Stern, M. P., MacCluer, J. W., & Blangero, J. (1997). A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nature Genetics, 15(3), 273-276. https://doi.org/10.1038/ng0397-273