Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4α (HNF4A) P2 region are associated with type 2 diabetes in scandinavians

Diabetes

Volumn 56, Issue 12, 2007, Pages 3112-3117

  Johansson, Stefan ^a,b   Ræder, Helge ^a,b   Eide, Stig Å ^a,b   Midthjell, Kristian ^c   Hveem, Kristian ^c   Søvik, Oddmund ^a   Molven, Anders ^a,b   Njølstad, Pål Rasmus ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 4ALPHA; PROTEIN P2;

ADULT; ARTICLE; CASE CONTROL STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LIVER CELL; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; NORWAY; POPULATION RESEARCH; PRIORITY JOURNAL; PROMOTER REGION; SCANDINAVIA; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

ADULT; AGED; DIABETES MELLITUS, TYPE 2; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MALE; MIDDLE AGED; NORWAY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); REFERENCE VALUES; SCANDINAVIA; VARIATION (GENETICS);

EID: 36849037397     PISSN: 00121797     EISSN: 00121797     Source Type: Journal    
DOI: 10.2337/db07-0513     Document Type: Article

References (30)

1. Odom DT, Zizlsperger N, Gordon DB, Bell GW, Rinaldi NJ, Murray HL, Volkert TL, Schreiber J, Rolfe PA, Gifford DK, Fraenkel E, Bell GI, Young RA: Control of pancreas and liver gene expression by HNF transcription factors. Science 303:1378-1381, 2004
2. Gupta RK, Vatamaniuk MZ, Lee CS, Flaschen RC, Fulmer JT, Matschinsky FM, Duncan SA, Kaestner KH: The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion. J Clin Invest 115:1006-1015, 2005
3. Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SMS, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, Hattersley AT: A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet 10:2089-2097, 2001
4. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460, 1996
5. Raeder H, Bjørkhaug L, Johansson S, Mangseth K, Sagen JV, Hunting A, Følling I, Johansen O, Bjørgaas M, Paus PN, Søvik O, Molven A, Njølstad PR: A hepatocyte nuclear factor-4α gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY Registry. Diabetes 55:1899-1903, 2006
6. Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT: Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia 48:878-885, 2005
7. Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT: Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Medicine 4:e118, 2007
8. Love-Gregory LD, Wasson J, Ma J, Jin CH, Glaser B, Suarez BK, Permutt MA: A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4α gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an Ashkenazi Jewish population. Diabetes 53:1134-1140, 2004
9. Silander K, Mohlke KL, Scott LJ, Peck EC, Hollstein P, Skol AD, Jackson AU, Deloukas P, Hunt S, Stavrides G, Chines PS, Erdos MR, Narisu N, Conneely KN, Li C, Fingerlin TE, Dhanjal SK, Valle TT, Bergman RN, Tuomilehto J, Watanabe RM, Boehnke M, Collins FS: Genetic variation near the hepatocyte nuclear factor-4α gene predicts susceptibility to type 2 diabetes. Diabetes 53:1141-1149, 2004
10. Damcott CM, Hoppman N, Ott SH, Reinhart LJ, Wang J, Pollin TI, O'Connell JR, Mitchell BD, Shuldiner AR: Polymorphisms in both promoters of hepatocyte nuclear factor 4-α are associated with type 2 diabetes in the Amish. Diabetes 53:3337-3341, 2004
11. Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM: Common variants of the hepatocyte nuclear factor-4α P2 promoter are associated with type 2 diabetes in the U.K. population. Diabetes 53:3002-3006, 2004
12. Hansen SK, Rose CS, Glumer C, Drivsholm T, Borch-Johnsen K, Jorgensen T, Pedersen O, Hansen T: Variation near the hepatocyte nuclear factor (HNF)-4alpha gene associates with type 2 diabetes in the Danish population. Diabetologia 48:452-458, 2005
13. Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D: Association testing of variants in the hepatocyte nuclear factor 4α gene with risk of type 2 diabetes in 7,883 people. Diabetes 54:886-892, 2005
14. Vaxillaire M, Dina C, Lobbens S, Dechaume A, Vasseur-Delannoy V, Helbecque N, Charpentier G, Froguel P: Effect of common polymorphisms in the HNF4alpha promoter on susceptibility to type 2 diabetes in the French Caucasian population. Diabetologia 48:440-444, 2005
15. Bagwell AM, Bento JL, Mychaleckyj JC, Freedman BI, Langefeld CD, Bowden DW: Genetic Analysis of HNF4A polymorphisms in Caucasian-American type 2 diabetes. Diabetes 54:1185-1190, 2005
16. Muller YL, Infante AM, Hanson RL, Love-Gregory L, Knowler W, Bogardus C, Baier LJ: Variants in hepatocyte nuclear factor 4α are modestly associated with type 2 diabetes in Pima Indians. Diabetes 54:3035-3039, 2005
17. Hara K, Horikoshi M, Kitazato H, Ito C, Noda M, Ohashi J, Froguel P, Tokunaga K, Tobe K, Nagai R, Kadowaki T: Hepatocyte nuclear factor-4α P2 promoter haplotypes are associated with type 2 diabetes in the Japanese population. Diabetes 55:1260-1264, 2006
18. Wanic K, Malecki MT, Wolkow PP, Klupa T, Skupien J, Bobrek J, Kozek E, Krolewski AS, Sieradzki J: Polymorphisms in the gene encoding hepatocyte nuclear factor-4alpha and susceptibility to type 2 diabetes in a Polish population. Diabetes Metab 32:86-88, 2006
19. Bonnycastle LL, Willer CJ, Conneely KN, Jackson AU, Burrill CP, Watanabe RM, Chines PS, Narisu N, Scott LJ, Enloe ST, Swift AJ, Duren WL, Stringham HM, Erdos MR, Riebow NL, Buchanan TA, Valle TT, Tuomilehto J, Bergman RN, Mohlke KL, Boehnke M, Collins FS: Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes 55:2534-2540, 2006
20. Tanahashi T, Osabe D, Nomura K, Shinohara S, Kato H, Ichiishi E, Nakamura N, Yoshikawa T, Takata Y, Miyamoto T, Shiota H, Keshavarz P, Yamaguchi Y, Kunika K, Moritani M, Inoue H, Itakura M: Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese. Hum Genet 120:527-542, 2006
21. Lehman DM, Richardson DK, Jenkinson CP, Hunt KJ, Dyer TD, Leach RJ, Arya R, Abboud HE, Blangero J, Duggirala R, Stern MP: P2 promoter variants of the hepatocyte nuclear factor 4α gene are associated with type 2 diabetes in Mexican Americans. Diabetes 56:513-517, 2007
22. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES: The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80, 2000
23. Florez JC, Burtt N, de Bakker PIW, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D: Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 53:1360-1368, 2004
24. Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J, Helgason A, Stefansson H, Emilsson V, Helgadottir A, Styrkarsdottir U, Magnusson KP, Walters GB, Palsdottir E, Jonsdottir T, Gudmundsdottir T, Gylfason A, Saemundsdottir J, Wilensky RL, Reilly MP, Rader DJ, Bagger Y, Christiansen C, Gudnason V, Sigurdsson G, Thorsteinsdottir U, Gulcher JR, Kong A, Stefansson K: Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 38:320-323, 2006
25. Zeggini E, McCarthy MI: TCF7L2: the biggest story in diabetes genetics since HLA? Diabetologia 50:1-4, 2007
26. Midthjell K, Krüger O, Holmen J, Tverdal A, Claudi T, Bjørndal A, Magnus P: Rapid changes in the prevalence of obesity and known diabetes in an adult Norwegian population: the Nord-Trøndelag Health Surveys: 1984-1986 and 1995-1997. Diabetes Care 22:1813-1820, 1999
27. Dudbridge F: Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-121, 2003
28. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, Boutin P, Vincent D, Belisle A, Hadjadj S, Balkau B, Heude B, Charpentier G, Hudson TJ, Montpetit A, Pshezhetsky AV, Prentki M, Posner BI, Balding DJ, Meyre D, Polychronakos C, Froguel P: A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445:881-885, 2007
29. Als TD, Jørgensen TH, Borglum AD, Petersen PA, Mors O, Wang AG: Highly discrepant proportions of female and male Scandinavian and British Isles ancestry within the isolated population of the Faroe Islands. Eur J Hum Genet 14:497-504, 2006
30. Shaat N, Karlsson E, Lernmark A, Ivarsson S, Lynch K, Parikh H, Almgren P, Berntorp K, Groop L: Common variants in MODY genes increase the risk of gestational diabetes mellitus. Diabetologia 49:1545-1551, 2006