TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 24, 2014, Pages 8913-8918

  Mahdessian, Hovsep ^a   Taxiarchis, Apostolos ^a   Popov, Sergej ^a   Silveira, Angela ^a   Franco Cereceda, Anders ^b   Hamsten, Anders ^a   Eriksson, Per ^a   Van't Hooft, Ferdinand ^a  

^a Scandinavian College of Chiropractic   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

19p12 locus; TM6SF2 expression; TM6SF2 function; TM6SF2 identification

Indexed keywords

FAT DROPLET; MESSENGER RNA; SMALL INTERFERING RNA; TRIACYLGLYCEROL;

ARTICLE; CHROMOSOME 19P; CONFOCAL MICROSCOPY; DIABETES MELLITUS; DYSLIPIDEMIA; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HEPG2 CELL LINE; HUMAN; HUMAN TISSUE; ISCHEMIC HEART DISEASE; LIPID METABOLISM; LIPOPROTEIN METABOLISM; LIVER CELL CULTURE; LIVER METABOLISM; NONALCOHOLIC FATTY LIVER; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; TM6SF2 GENE; TRIACYLGLYCEROL BLOOD LEVEL; WESTERN BLOTTING;

19P12 LOCUS; TM6SF2 EXPRESSION; TM6SF2 FUNCTION; TM6SF2 IDENTIFICATION;

ANIMALS; CATTLE; CELL LINE, TUMOR; DOGS; ENDOPLASMIC RETICULUM; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GOLGI APPARATUS; GUINEA PIGS; HEP G2 CELLS; HUMANS; LIPID METABOLISM; LIPIDS; LIVER; MEMBRANE PROTEINS; MICE; QUANTITATIVE TRAIT LOCI; RATS; RNA, SMALL INTERFERING; TISSUE DISTRIBUTION; TRIGLYCERIDES;

EID: 84902602986     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1323785111     Document Type: Article

References (20)

1. Willer CJ, et al. (2008) Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 40(2):161-169. (Pubitemid 351171403)
2. Kathiresan S, et al. (2008) Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 40(2):189-197. (Pubitemid 351171402)
3. Aulchenko YS, et al.; ENGAGE Consortium (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 41(1):47-55.
4. Kathiresan S, et al. (2009) Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 41(1):56-65.
5. Teslovich TM, et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466(7307):707-713.
6. Willer CJ, et al.; Global Lipids Genetics Consortium (2013) Discovery and refinement of loci associated with lipid levels. Nat Genet 45(11):1274-1283.
7. Speliotes EK, et al.; NASH CRN; GIANT Consortium; MAGIC Investigators; GOLD Consortium (2011) Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet 7(3):e1001324.
8. Gorden A, et al.; GOLD Consortium (2013) Genetic variation at NCAN locus is associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesity. Hum Hered 75(1):34-43.
9. Do R, et al. (2013) Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 45(11):1345-1352.
10. Morris AP, et al.; Wellcome Trust Case Control Consortium; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Asian Genetic Epidemiology Network- Type 2 Diabetes (AGEN-T2D) Consortium; South Asian Type 2 Diabetes (SAT2D) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium (2012) Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 44(9):981-990.
11. Saxena R, et al.; Look AHEAD Research Group; DIAGRAM consortium (2012) Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet 90(3):410-425.
12. Musunuru K, et al. (2010) From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466(7307):714-719.
13. Carim-Todd L, Escarceller M, Estivill X, Sumoy L (2000) Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24→q26 and 19p13.3→p12. Cytogenet Cell Genet 90(3-4):255-260. (Pubitemid 32008775)
14. Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812-3814. (Pubitemid 37442253)
15. Dezso Z, et al. (2008) A comprehensive functional analysis of tissue specificity of human gene expression. BMC Biol 6:49.
16. Krapivner S, et al. (2010) DGAT1 participates in the effect of HNF4A on hepatic secretion of triglyceride-rich lipoproteins. Arterioscler Thromb Vasc Biol 30(5):962-967.
17. Kozlitina J, et al. (2014) Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 46(4):352-356.
18. Holmen OL, et al. (2014) Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk. Nat Genet 46(4):345-351.
19. Zhou L, et al. (2011) Genetic variants at newly identified lipid loci are associated with coronary heart disease in a Chinese Han population. PLoS ONE 6(11):e27481.
20. Folkersen L, et al.; BiKE and ASAP study groups (2010) Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease. Circ Cardiovasc Genet 3(4):365-373.