title: Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
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'.
authors.affiliation: National Heart and Lung Institute, Imperial College London, UK. j.scott@imperial.ac.uk
authors.forename: Jaspal S
authors.initials: JS
authors.lastname: Kooner
authors.forename: John C
authors.initials: JC
authors.lastname: Chambers
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Aguilar-Salinas
authors.forename: David A
authors.initials: DA
authors.lastname: Hinds
authors.forename: Craig L
authors.initials: CL
authors.lastname: Hyde
authors.forename: Gregory R
authors.initials: GR
authors.lastname: Warnes
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Gómez Pérez
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Frazer
authors.forename: Paul
authors.initials: P
authors.lastname: Elliott
authors.forename: James
authors.initials: J
authors.lastname: Scott
authors.forename: Patrice M
authors.initials: PM
authors.lastname: Milos
authors.forename: David R
authors.initials: DR
authors.lastname: Cox
authors.forename: John F
authors.initials: JF
authors.lastname: Thompson
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D015331:Cohort Studies; D005060:Europe; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D007194:India; D016014:Linear Models; D015810:Linkage Disequilibrium; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics; D008800:Mexico; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D025341:Principal Component Analysis; D014280:Triglycerides / Q000097:blood* / Q000235:genetics*; D044465:White People
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D005819:Genetic Markers; C116385:MLXIPL protein, human; D014280:Triglycerides