Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides by Kooner Jaspal S, Chambers John C, Aguilar-Salinas Carlos A, Hinds David A, Hyde Craig L, Warnes Gregory R, Gómez Pérez Francisco J, Frazer Kelly A, Elliott Paul, Scott James, Milos Patrice M, Cox David R, Thompson John F in Nature genetics (2008).

[PMID: 18193046] PubMed


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 x 10(-10)). MLXIPL coordinates transcriptional regulation of enzymes that channel glycolytic end-products into lipogenesis and energy storage, making MLXIPL a plausible 'thrifty gene'.

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