Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides

JS Kooner, JC Chambers, CA Aguilar-Salinas… - Nature …, 2008 - nature.com
Nature genetics, 2008nature.com
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'.
Abstract
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'.
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