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Updated: Jul 8, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
Jaspal S Kooner1, John C Chambers, Carlos A Aguilar-Salinas
1National Heart and Lung Institute, Imperial College London, UK. j.scott@imperial.ac.uk
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 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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