The private hepatocyte nuclear factor-1α G319S variant is associated with plasma lipoprotein variation in Canadian Oji-Cree

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 20, Issue 1, 2000, Pages 217-222

  Hegele, Robert A ^a   Cao, Henian ^a   Harris, Stewart B ^b   Hanley, Anthony J G ^c   Zinman, Bernard ^c   Connelly, Philip W ^d  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

Atherosclerosis; Diabetes; Polygenic traits; Transcription factors

Indexed keywords

APOLIPOPROTEIN A1; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN; LIPOPROTEIN; NUCLEAR FACTOR I;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033976609     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.20.1.217     Document Type: Article

References (37)

1. Hegele RA, Cao H, Harris SB, Hanley AJG, Zinman B. The hepatic nuclear factor-1α G319S variant is associated with early onset type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab. 1999;84: 1077-1082.
2. Hegele RA, Cao H, Harris SB, Hanley AJG, Zinman B. HNF-1α G319S: a private mutation in Oji-Cree associated with type 2 diabetes. Diabetes Care. 1999;22:524.
3. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young. Nature. 1996;384:455-458.
4. Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1α gene. Diabetes. 1997;46:1648-1651.
5. Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowski I, Sahm J, Meincke G, Schulze J, Schmechel H, Petzold C, Ledermann HM, Sachse G, Boriraj VV, Menzel R, Kerner W, Turner RC, Yamagata K, Bell GI. Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes. 1997;46:528-535.
6. Iwasaki N, Oda N, Ogata M, Hara M, Hinokio Y, Oda Y, Yamagata K, Kanematsu S, Ohgawara H, Omori Y, Bell GI. Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 1997;46:1504-1508.
7. Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the UK. Diabetes. 1997;46:720-725.
8. Awata T, Kurihara S, Inoue K, Inoue I, Takei S-I, Ishii C, Negishi K, Namai K, Kanazawa Y, Kuzuya T, Katayama S. A novel missense mutation in the homeodomain of the hepatic nuclear factor-1α/maturity-onset diabetes of the young 3 in a Japanese early-onset type 2 diabetic patient and .time-course of glucose-stimulated insulin secretion. Diabetes Care. 1998;21:1569-1571.
9. Yamada S, Nishigori H, Onda H, Takahashi K, Kitano N, Morikawa A, Takeuchi T, Takeda J. Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects. Diabetes. 1997;46:1512-1513.
10. Nishigori H, Yamada S, Kohama T, Utsugi T, Shimizu H, Takeuchi T, Takeda J. Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. J Hum Genet. 1998;43:107-110.
11. Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S. A rapid screening method for hepatocyte nuclear factor 1α frameshift mutations: prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum Genet. 1997;101:351-354.
12. Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J. Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM. Diabetes. 1997;46:1643-1647.
13. Lehto M, Tuomi T, Mahtani MM, Widen E, Forsblom C, Sarelin L, Gullstrom M, Isomaa B, Lehtovirta M, Hyrkko A, Kanninen T, Orho M, Manley S, Turner RC, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen MR, Groop L. Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest. 1997;99:582-591.
14. Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A, Pick AJ, Baldwin A, Velho G, Froguel P, Levisetti M, Bonner-Weir S, Bell GI, Yaniv M, Polonsky KS. Defective insulin secretion in hepatocyte nuclear factor 1α-deficient mice. J Clin Invest. 1998;101:2215-2222.
15. Yamagata K, Yang Q, Yamamoto K, Iwahashi H, Miyagawa J, Okita K, Yoshiuchi I, Miyazaki J, Noguchi T, Nakajima H, Namba M, Hanafusa T, Matsuzawa Y. Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1α is dominant negative. Diabetes. 1998;47:1231-1235.
16. Surmely JF, Guenat E, Philippe J, Dussoix P, Schneiter P, Temler E, Vaxillaire M, Froguel P, Jequier E, Tappy L. Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1α gene. Diabetes. 1998;47:1459-1463.
17. Hansen T, Eiberg H, Rouard M, Vaxillaire M, Moller AM, Rasmussen SK, Fridberg M, Urhammer SA, Holst JJ, Almind K, Echwald SM, Hansen L, Bell GI, Pedersen O. Novel MODY3 mutations in the hepatocyte nuclear factor-1α gene: evidence for a hyperexcitability of pancreatic β-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes. 1997;46:726-730.
18. Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P. Identification of nine novel mutations in the hepatocyte nuclear factor 1α gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet. 1997;6: 583-586.
19. Glucksmann MA, Lehto M, Tayber O, Scotti S, Berkemeier L, Pulido JC, Wu Y, Nir WJ, Fang L, Markel P, Munnelly KD, Goranson J, Orho M, Young BM, Whitacre JL, McMenimen C, Wantman M, Tuomi T, Warram J, Forsblom CM, Carlsson M, Rosenzweig J, Kennedy G, Duyk GM, Thomas JD, et al. Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes. 1997;46:1081-1086.
20. Courtois G, Morgan JG, Campbell LA, Fourel G, Crabtree GR. Interaction of a liver-specific nuclear factor with the fibrinogen and α-1-antitrypsin promoters. Science. 1987;238:688-692.
21. Cereghini S. Liver-enriched transcription factors and hepatocyte differentiation. FASEB J. 1996;10:267-282.
22. Bach I, Galcheva-Gargova Z, Mattei MG, Simon-Chazottes D, Guenet J-L, Cereghini S, Yaniv M. Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. Genomics. 1990;8:155-164.
23. Brooks AR, Blackhart BD, Haubold K, Levy-Wilson B. Characterization of tissue-specific enhancer elements in the second intron of the human apolipoprotein B gene. J Biol Chem. 1991;266:7848-7859.
24. Brooks AR, Levy-Wilson B. Hepatocyte nuclear factor 1 and C/EBP are essential for the activity of the human apolipoprotein B gene second-intron enhancer. Mol Cell Biol. 1992;12:1134-1148.
25. Lee SY, Nagy BP, Brooks AR, Wang DM, Paulweber B, Levy-Wilson B. Members of the caudal family of homeodomain proteins repress transcription from the human apolipoprotein B promoter in intestinal cells. J Biol Chem. 1996;271:707-718.
26. Wade DP, Lindahl GE, Lawn RM. Apolipoprotein(a) gene transcription is regulated by liver-enriched trans-acting factor hepatocyte nuclear factor 1α. J Biol Chem. 1994;269:19757-19765.
27. Kritis AA, Ktistaki E, Barda D, Zannis VI, Talianidis I. An indirect negative autoregulatory mechanism involved in hepatocyte nuclear factor-1 gene expression. Nucleic Acids Res. 1993;21:5882-5889.
28. Garg A. Dyslipoproteinemia and diabetes. Endocrinol Metab Clin North Am. 1998;27:613-625.
29. Harris SB, Gittelsohn J, Hanley AJG, Barnie A, Wolever TMS, Gao J, Logan A, Zinman B. The prevalence of NIDDM and associated risk factors in native Canadians. Diabetes Care. 1997;20:185-197.
30. Gittelsohn J, Wolever TM, Harris SB, Harris-Giraldo R, Hanley AJ, Zinman B. Specific patterns of food consumption and preparation are associated with diabetes and obesity in a native Canadian community. J Nutr. 1998;128: 541-547.
31. Gittelsohn J, Harris SB, Burris KL, Kakegamic L, Landman LT, Sharma A, Wolever TM, Logan A, Barnie A, Zinman B. Use of ethnographic methods for applied research on diabetes among the Ojibway-Cree in northern Ontario. Health Educ Q. 1996;23:365-382.
32. Hanley AJ, Harris SB, Gao XJ, Kwan J, Zinman B. Serum immunoreactive leptin concentrations in a Canadian aboriginal population with high rates of NIDDM. Diabetes Care. 1997;20:1408-1415.
33. World Health Organization (WHO) Expert Committee on Diabetes Mellitus: Second Report. Geneva, Switzerland; World Health Organization; 1980. WHO technical report series 646.
34. National Diabetes Data Group. Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. Diabetes. 1979;28: 1039-1057.
35. Hegele RA, Connelly PW, Hanley AJ, Sun F, Harris SB, Zinman B. Common genomic variants associated with variation in plasma lipoproteins in young aboriginal Canadians. Arterioscler Thromb Vasc Biol. 1997;17: 1060-1066.
36. Hegele RA, Connelly PW, Hanley AJ, Sun F, Harris SB, Zinman B. Common genomic variation in the APOC3 promoter associated with variation in plasma lipoproteins. Arterioscler Thromb Vasc Biol. 1997;17: 2753-2758.
37. SAS Institute Inc. SAS/STAT Guide for Personal Computers. version 6 ed. Cary, NC: SAS Institute Inc; 1995.