Comparison of the impact of the I27L polymorphism of the hepatocyte nuclear factor-1 alpha on estimated and measured beta cell indices

European Journal of Endocrinology

Volumn 148, Issue 6, 2003, Pages 641-647

  Chiu, Ken C ^b   Chuang, Lee Ming ^a   Chu, Audrey ^b   Yoon, Carol ^b   Wang, Max ^b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOSE; INSULIN; NUCLEAR FACTOR I;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CHICKEN; CONTROLLED STUDY; CORRELATION ANALYSIS; DIMERIZATION; FEMALE; FROG; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENOTYPE; GLUCOSE TOLERANCE; HAMSTER; HUMAN; HUMAN CELL; INSULIN RESPONSE; MALE; MOUSE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; ORAL GLUCOSE TOLERANCE TEST; PANCREAS ISLET BETA CELL; PATHOGENESIS; PRIORITY JOURNAL; RAT; SAMPLE SIZE; SPECIES DIFFERENCE; ZEBRA FISH;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CONSERVED SEQUENCE; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; HYPERGLYCEMIA; INSULIN; ISLETS OF LANGERHANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS; ZEBRAFISH PROTEINS;

EID: 0038544699     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1480641     Document Type: Article

References (24)

1. Fajans SS, Bell GI & Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New England Journal of Medicine 2001 345 971-980.
2. Lehto M, Tuomi T, Mahtani MM, Widaen E, Forsblom C, Sarelin L et al. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. Journal of Clinical Investigation 1997 99 582-591.
3. Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. Journal of Clinical Investigation 1998 101 2215-2222.
4. Mahtani MM, Widaen E, Lehto M, Thomas J, McCarthy M, Brayer J et al. Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nature Genetics 1996 14 90-94.
5. Bowden DW, Sale M, Howard TD, Qadri A, Spray BJ, Rothschild CB et al. Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 1997 46 882-886.
6. Velho G, Vaxillaire M, Boccio V, Charpentier G & Froguel P. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care 1996 19 915-919.
7. Lee YH, Sauer B & Gonzalez FJ. Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. Molecular and Cellular Biology 1998 18 3059-3068.
8. Shaw JT, Lovelock PK, Kesting JB, Cardinal J, Duffy D, Wainwright B et al. Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q. Diabetes 1998 47 1793-1796.
9. Ehm MG, Karnoub MC, Sakul H, Gottschalk K, Holt DC, Weber JL et al. Genomewide search for type 2 diabetes susceptibility genes in four American populations. American Journal of Human Genetics 2000 66 1871-1881.
10. Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K et al. HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. PNAS 2002 99 4614-4619.
11. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF & Turner RC. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985 28 412-419.
12. Stumvoll M, Mitrakou A, Pimenta W, Jenssen T, Yki-Jarvinen H, Van Haeften T et al. Use of the oral glucose tolerance test to assess insulin release and insulin sensitivity. Diabetes Care 2000 23 295-301.
13. Raffel LJ, Robbins DC, Norris JM, Boerwinkle E, DeFronzo RA, Elbein SC et al. The GENNID Study. A resource for mapping the genes that cause NIDDM. Diabetes Care 1996 19 864-872.
14. Rossetti L, Giaccari A & DeFronzo RA. Glucose toxicity. Diabetes Care 1990 13 610-630.
15. DeFronzo RA, Tobin JD & Andres R. Glucose clamp technique: a method for quantifying insulin secretion and resistance. American Journal of Physiology 1979 237 E214-E223.
16. Chiu KC & McCarthy JE. The insertion allele at the angiotensin I-converting enzyme gene locus is associated with insulin resistance. Metabolism: Clinical and Experimental 1997 46 395-399.
17. Levy JC, Matthews DR & Hermans MP. Correct homeostasis model assessment (HOMA) evaluation uses the computer program. Diabetes Care 1998 21 2191-2192.
18. Ryffel GU. Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. Journal of Molecular Endocrinology 2001 27 11-29.
19. Babaya N, Ikegami H, Kawaguchi Y, Fujisawa T, Nakagawa Y, Hamada Y et al. Hepatocyte nuclear factor-1alpha gene and non-insulin-dependent diabetes mellitus in the Japanese population. Acta Diabetologica 1998 35 150-153.
20. Behn PS, Wasson J, Chayen S, Smolovitch I, Thomas J, Glaser B et al. Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews. Diabetes 1998 47 967-969.
21. Lehto M, Wipemo C, Ivarsson SA, Lindgren C, Lipsanen-Nyman M, Weng J et al. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia 1999 42 1131-1137.
22. Nishigori H, Yamada S, Kohama T, Utsugi T, Shimizu H, Takeuchi T et al. Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. Journal of Human Genetics 1998 43 107-110.
23. Rissanen J, Wang H, Miettinen R, Karkkainen P, Kekalainen P, Mykkanen L et al. Variants in the hepatocyte nuclear factor-1alpha and -4alpha genes in Finnish and Chinese subjects with late-onset type 2 diabetes. Diabetes Care 2000 23 1533-1538.
24. Urhammer SA, Rasmussen SK, Kaisaki PJ, Oda N, Yamagata K, Mller AM et al. Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia 1997 40 473-475.