Brief Communication abstract
Nature Genetics 40, 149 - 151 (2008)
Published online: 13 January 2008 | doi:10.1038/ng.2007.61
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
Jaspal S Kooner1,7, John C Chambers2,7, Carlos A Aguilar-Salinas3, David A Hinds4, Craig L Hyde5, Gregory R Warnes5,6, Francisco J Gómez Pérez3, Kelly A Frazer4, Paul Elliott2, James Scott1, Patrice M Milos5,6, David R Cox4 & John F Thompson5
We tested over 267,000 SNPs in 1,005 Northern Europeans and 248,000 in 1,006 Indian Asians for association with triglycerides and HDL cholesterol, with replication in 10,536 subjects. We found association of a nonsynonymous SNP (rs3812316, G771C, Gln241His) in MLXIPL with plasma triglyceride levels (combined P = 1.4 
10-10). MLXIPL coordinates transcriptional regulation of enzymes that channel glycolytic end-products into lipogenesis and energy storage, making MLXIPL a plausible 'thrifty gene'.
- National Heart and Lung Institute, Imperial College London, UK.
- Department of Epidemiology and Public Health, Imperial College London, UK.
- Instituto Nacional de Ciencias Médicas y Nutrición, Vasco de Quiroga 15, México City 14000, México.
- Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, California 94043, USA.
- Pfizer Global Research and Development, Groton, Connecticut 06340, USA.
- Current address: Department of Biostatistics and Computational Biology, University of Rochester, Rochester, New York 14642, USA (G.R.W.); Helicos BioSciences, Cambridge, Massachusetts 02139, USA (P.M.M.).
- These authors contributed equally to this work.
Correspondence to: Jaspal S Kooner1,7 e-mail: j.scott@imperial.ac.uk
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