Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
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'.
Kooner
Jaspal S
JS
National Heart and Lung Institute, Imperial College London, UK. j.scott@imperial.ac.uk
Chambers
John C
JC
Aguilar-Salinas
Carlos A
CA
Hinds
David A
DA
Hyde
Craig L
CL
Warnes
Gregory R
GR
Gómez Pérez
Francisco J
FJ
Frazer
Kelly A
KA
Elliott
Paul
P
Scott
James
J
Milos
Patrice M
PM
Cox
David R
DR
Thompson
John F
JF
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
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D005819:Genetic Markers; C116385:MLXIPL protein, human; D014280:Triglycerides