Functional and genetic analysis in type 2 diabetes of Liver X receptor alleles - A cohort study

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Dahlman, Ingrid ^a   Nilsson, Maria ^a   Gu, Harvest F ^a   Lecoeur, Cecile ^b   Efendic, Suad ^a   Östenson, Claes G ^a   Brismar, Kerstin ^a   Gustafsson, Jan Åke ^a,d   Froguel, Philippe ^b,c   Vaxillaire, Martine ^b   Dahlman Wright, Karin ^a   Steffensen, Knut R ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b Institut Pasteur de Lille   (France)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

^d University of Houston   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; LIVER X RECEPTOR ALPHA; LIVER X RECEPTOR BETA; LUCIFERASE; NUCLEAR FACTOR I; ORAL ANTIDIABETIC AGENT; CELL RECEPTOR; DNA BINDING PROTEIN; LIVER X RECEPTOR;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; BINDING SITE; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FRANCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; HUMAN; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; MAJOR CLINICAL STUDY; MALE; MOUSE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; ORAL GLUCOSE TOLERANCE TEST; PHENOTYPE; PROMOTER REGION; PROTEIN DNA BINDING; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSACTIVATION; AGED; ANALYSIS OF VARIANCE; CHI SQUARE DISTRIBUTION; GEL MOBILITY SHIFT ASSAY; GENETIC TRANSFECTION; GENETICS; MIDDLE AGED; MOLECULAR CLONING; REPORTER GENE; SWEDEN;

AGED; ALLELES; ANALYSIS OF VARIANCE; CHI-SQUARE DISTRIBUTION; CLONING, MOLECULAR; COHORT STUDIES; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; FRANCE; GENES, REPORTER; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTORS, CYTOPLASMIC AND NUCLEAR; SWEDEN; TRANSFECTION;

EID: 64049090224     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-27     Document Type: Article

References (40)

1. Frayling TM McCarthy MI Genetic studies of diabetes following the advent of the genome-wide association study: Where do we go from here? Diabetologia 2007, 50(11):2229-2233. 10.1007/s00125-007-0825-7 17909877
2. Zelcer N Tontonoz P Liver X receptors as integrators of metabolic and inflammatory signaling J Clin Invest 2006, 116(3):607-614. 1386115 16511593 10.1172/JCI27883
3. Cao G Liang Y Broderick CL Oldham BA Beyer TP Schmidt RJ Zhang Y Stayrook KR Suen C Otto KA Antidiabetic action of a liver x receptor agonist mediated by inhibition of hepatic gluconeogenesis J Biol Chem 2003, 278(2):1131-1136. 10.1074/jbc.M210208200 12414791
4. Grefhorst A van Dijk TH Hammer A Sluijs van der FH Havinga R Havekes LM Romijn JA Groot PH Reijngoud DJ Kuipers F Differential effects of pharmacological liver X receptor activation on hepatic and peripheral insulin sensitivity in lean and ob/ob mice Am J Physiol Endocrinol Metab 2005, 289(5):E829-838. 10.1152/ajpendo.00165.2005 15941783
5. Laffitte BA Chao LC Li J Walczak R Hummasti S Joseph SB Castrillo A Wilpitz DC Mangelsdorf DJ Collins JL Activation of liver X receptor improves glucose tolerance through coordinate regulation of glucose metabolism in liver and adipose tissue Proc Natl Acad Sci USA 2003, 100(9):5419-5424. 154360 12697904 10.1073/pnas.0830671100
6. Cha JY Repa JJ The liver X receptor (LXR) and hepatic lipogenesis. The carbohydrate-response element-binding protein is a target gene of LXR J Biol Chem 2007, 282(1):743-751. 10.1074/jbc.M605023200 17107947
7. Kase ET Wensaas AJ Aas V Hojlund K Levin K Thoresen GH Beck-Nielsen H Rustan AC Gaster M Skeletal muscle lipid accumulation in type 2 diabetes may involve the liver X receptor pathway Diabetes 2005, 54(4):1108-1115. 10.2337/diabetes.54.4.1108 15793250
8. Dalen KT Ulven SM Bamberg K Gustafsson JA Nebb HI Expression of the insulin-responsive glucose transporter GLUT4 in adipocytes is dependent on liver X receptor alpha J Biol Chem 2003, 278(48):48283-48291. 10.1074/ jbc.M302287200 12970362
9. Efanov AM Sewing S Bokvist K Gromada J Liver X receptor activation stimulates insulin secretion via modulation of glucose and lipid metabolism in pancreatic beta-cells Diabetes 2004, 53(Suppl 3):S75-78. 10.2337/diabetes.53.suppl_3.S75 15561926
10. Gerin I Dolinsky VW Shackman JG Kennedy RT Chiang SH Burant CF Steffensen KR Gustafsson JA MacDougald OA LXRbeta is required for adipocyte growth, glucose homeostasis, and beta cell function J Biol Chem 2005, 280(24):23024-23031. 10.1074/jbc.M412564200 15831500
11. Dahlman I Nilsson M Jiao H Hoffstedt J Lindgren CM Humphreys K Kere J Gustafsson JA Arner P Dahlman-Wright K Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity Pharmacogenet Genomics 2006, 16(12):881-889. 10.1097/ 01.fpc.0000236334.49422.48 17108812
12. Legry V Cottel D Ferrieres J Chinetti G Deroide T Staels B Amouyel P Meirhaeghe A Association between liver X receptor alpha gene polymorphisms and risk of metabolic syndrome in French populations Int J Obes (Lond) 2008, 32(3):421-428. 10.1038/sj.ijo.0803705 18209740
13. Cheyssac C Lecoeur C Dechaume A Bibi A Charpentier G Balkau B Marre M Froguel P Gibson F Vaxillaire M Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population BMC Med Genet 2006, 7:44. 1525165 16677372 10.1186/ 1471-2350-7-44
14. World Health Organization Report Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1 Diagnosis and classification of diabetes mellitus. Report of WHO consultation 1999 http://whqlibdoc.who.int/hq/1999/
15. Vaxillaire M Veslot J Dina C Proenca C Cauchi S Charpentier G Tichet J Fumeron F Marre M Meyre D et al. Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study Diabetes 2008, 57(1):244-254. 10.2337/db07-0615 17977958
16. Sladek R Rocheleau G Rung J Dina C Shen L Serre D Boutin P Vincent D Belisle A Hadjadj S A et al. genome-wide association study identifies novel risk loci for type 2 diabetes Nature 2007, 445(7130):881-885. 10.1038/nature05616 17293876
17. Florez JC Manning AK Dupuis J McAteer J Irenze K Gianniny L Mirel DB Fox CS Cupples LA Meigs JB A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: Replication and integration with other genome-wide datasets Diabetes 2007, 56(12):3063-3074. 10.2337/db07-0451 17848626
18. Hanson RL Bogardus C Duggan D Kobes S Knowlton M Infante AM Marovich L Benitez D Baier LJ Knowler WC A search for variants associated with young-onset type 2 diabetes in American Indians in a 100K genotyping array Diabetes 2007, 56(12):3045-3052. 10.2337/db07-0462 17846125
19. Hayes MG Pluzhnikov A Miyake K Sun Y Ng MC Roe CA Below JE Nicolae RI Konkashbaev A Bell GI et al. Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies Diabetes 2007, 56(12):3033-3044. 10.2337/db07-0482 17846124
20. Rampersaud E Damcott CM Fu M Shen H McArdle P Shi X Shelton J Yin J Chang YP Ott SH et al. Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations Diabetes 2007, 56(12):3053-3062. 10.2337/ db07-0457 17846126
21. Salonen JT Uimari P Aalto JM Pirskanen M Kaikkonen J Todorova B Hypponen J Korhonen VP Asikainen J Devine C Type 2 diabetes whole-genome association study in four populations: The DiaGen consortium Am J Hum Genet 2007, 81(2):338-345. 1950819 17668382 10.1086/520599
22. Scott LJ Mohlke KL Bonnycastle LL Willer CJ Li Y Duren WL Erdos MR Stringham HM Chines PS Jackson AU et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants Science 2007, 316(5829):1341-1345. 10.1126/science.1142382 17463248
23. Steinthorsdottir V Thorleifsson G Reynisdottir I Benediktsson R Jonsdottir T Walters GB Styrkarsdottir U Gretarsdottir S Emilsson V Ghosh S et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes Nat Genet 2007, 39(6):770-775. 10.1038/ng2043 17460697
24. Zeggini E Weedon MN Lindgren CM Frayling TM Elliott KS Lango H Timpson NJ Perry JR Rayner NW Freathy RM et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes Science 2007, 316(5829):1336-1341. 10.1126/science.1142364 17463249
25. Gauderman WJ Morrison JM QUANTO 1.1: A computer program for power and sample size calculations for genetic-epidemiology studies 2006 http://hydra.usc.edu/gxe/
26. Carlsson S Persson PG Alvarsson M Efendic S Norman A Svanstrom L Ostenson CG Grill V Weight history, glucose intolerance, and insulin levels in middle-aged Swedish men Am J Epidemiol 1998, 148(6):539-545. 9753008
27. Andersson CM Bjaras GE Ostenson CG A stage model for assessing a community-based diabetes prevention program in Sweden Health Promot Int 2002, 17(4):317-327. 10.1093/heapro/17.4.317 12406920
28. Agardh EE Ahlbom A Andersson T Efendic S Grill V Hallqvist J Norman A Ostenson CG Work stress and low sense of coherence is associated with type 2 diabetes in middle-aged Swedish women Diabetes Care 2003, 26(3):719-724. 10.2337/diacare.26.3.719 12610028
29. Hilding A Eriksson AK Agardh EE Grill V Ahlbom A Efendic S Ostenson CG The impact of family history of diabetes and lifestyle factors on abnormal glucose regulation in middle-aged Swedish men and women Diabetologia 2006, 49(11):2589-2598. 10.1007/s00125-006-0402-5 16969647
30. Bonora E Targher G Alberiche M Bonadonna RC Saggiani F Zenere MB Monauni T Muggeo M Homeostasis model assessment closely mirrors the glucose clamp technique in the assessment of insulin sensitivity: Studies in subjects with various degrees of glucose tolerance and insulin sensitivity Diabetes Care 2000, 23(1):57-63. 10.2337/diacare.23.1.57 10857969
31. Jurinke C Boom van den D Cantor CR Koster H Automated genotyping using the DNA MassArray technology Methods Mol Biol 2002, 187:179-192. 12013745
32. Haploview http://www.broad.mit.edu/mpg/haploview/
33. software F http://ihg.gsf.de/cgi-bin/hw/hwa1.pl
34. Tregouet DA Escolano S Tiret L Mallet A Golmard JL A new algorithm for haplotype-based association analysis: The Stochastic-EM algorithm Ann Hum Genet 2004, 68(Pt 2):165-177. 10.1046/j.1529-8817.2003.00085.x 15008795
35. Nilsson M Dahlman-Wright K Karelmo C Ebeling M Gustafsson JA Steffensen KR Elk1 and SRF transcription factors convey basal transcription and mediate glucose response via their binding sites in the human LXRB gene promoter Nucleic Acids Res 2007, 35(14):4858-4868. 1950530 17626048 10.1093/nar/gkm492
36. (TESS) Ttess http://www.cbil.upenn.edu/tess/
37. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Nature 2007, 447(7145):661-678. 10.1038/ nature05911 17554300
38. Zeggini E Scott LJ Saxena R Voight BF Marchini JL Hu T de Bakker PI Abecasis GR Almgren P Andersen G Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes Nat Genet 2008, 40(5):638-645. 10.1038/ng.120 18372903
39. Saxena R Voight BF Lyssenko V Burtt NP de Bakker PI Chen H Roix JJ Kathiresan S Hirschhorn JN Daly MJ Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels Science 2007, 316(5829):1331-1336. 10.1126/science.1142358 17463246
40. Steffensen KR Gustafsson JA Putative metabolic effects of the liver X receptor (LXR) Diabetes 2004, 53(Suppl 1):S36-42. 10.2337/ diabetes.53.2007.S36 14749264