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

Nature Genetics volume 15, pages 273–276 (1997)Cite this article

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 adipocytes1–4 and thought to play a role in the regulation of body fat5–8. Leptin levels in humans have been found to be highly correlated with an individual's total adiposity8,9. 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 × 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) and 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.

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Authors and Affiliations

  1. Department of Genetics, Southwest Foundation for Biomedical Research, P.O. Box 760549, San Antonio, Texas, 78245-0549, USA

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

  2. Division of Clinical Epidemiology, Department of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA

    Michael P. Stern

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  1. Anthony G. Comuzzie
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  2. James E. Hixson
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Correspondence to Anthony G. Comuzzie.

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Comuzzie, A., Hixson, J., Almasy, L. et al. A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nat Genet 15, 273–276 (1997). https://doi.org/10.1038/ng0397-273

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