Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q

Diabetes

Volumn 47, Issue 11, 1998, Pages 1793-1796

  Shaw, Joanne T E ^a,d   Lovelock, Paul K ^a,b   Kesting, Janine B ^a   Cardinal, John ^a   Duffy, David ^c   Wainwright, Brandon ^b   Cameron, Donald P ^a  

^a PRINCESS ALEXANDRA HOSPITAL   (United Kingdom)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^d PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 12Q; CLINICAL ARTICLE; FEMALE; GENE LOCATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; PEDIGREE; PRIORITY JOURNAL;

ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 12; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INSULIN RESISTANCE; LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NUCLEAR PROTEINS; PEDIGREE; PROMOTER REGIONS (GENETICS); TRANSCRIPTION FACTORS;

EID: 0031713870     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.47.11.1793     Document Type: Article

References (28)

1. DeFronzo RA: Lilly Lecture 1987: The triumvirate: B-cell, muscle, liver: a collusion responsible for NIDDM. Diabetes 37:667-687, 1988
2. Turner RC, Hattersley AT, Shaw JTE, Levy JC: Type II diabetes: clinical aspects of molecular biological studies. Diabetes 44:1-10, 1995
3. Fajans SS: Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev 5:579-606, 1989
4. Yamagata K, Furuta H, Oda N, Kaisaki JK, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460, 1996
5. Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, Froguel P, Cohen D: Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356:721-722, 1992
6. 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, LeBeau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Chevre J-C, Froguel P, Gell GI: Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458, 1996
7. Herman WH, Fajans SS, Ortiz FJ, Smith MJ, Stuns J, Bell GI, Polonsky KS, Halter JB: Abnormal insulin secretion, not insulin resistance is the genetic or primary defect of MODY in the RW pedigree. Diabetes 43:40-46, 1994; erratum Diabetes 43:1171, 1994
8. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt A, Beckmann JS, Bell GI, Cohen D: Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328:697-702, 1993
9. Byrne MM, Sturis J, Menzel S, Yamagata K, Fajans SS, Dronsfield MJ, Bain SC, Hattersley AT, Velho G, Froguel P, Bell GI, Polonsky KS: Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 45:1503-1510, 1996
10. Lento M, Tuomi T, Mahtani MM, Widen E. Forsblom C, Sarelin L, Gullstrom M, Isomaa B, Lehtovirta M, Hyrkko A, Kanninen T, Orbo M, Mauley S, Turner RC, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen M-R. Groop L: Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest 99:582-591, 1997
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 28:412-419, 1985
12. Levy JC, Rudenski A, Burnett M, Knight R, Matthews DR, Turner RC: Simple empirical assessment of beta-cell function by a constant infusion of glucose test in normal and type 2 (non-insulin-dependent) diabetic subjects. Diabetologia 34:488-489, 1991
13. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 21 (Suppl. 1):S5-S19, 1998
14. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
15. Cottingham RW Jr, Idury RM, Schaffer AA: Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263, 1993
16. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr: Avoiding recomputation in linkage analysis. Hum Hered 44:225-237, 1994
17. Lathrop GM, Lalouel J-M, White RL: Construction of human genetic linkage maps: likelihood calculations for multilocus analysis. Genet Epidemiol 3:39-52, 1986
18. Cook JTE, Hattersley AT, Christopher P, Bown E, Barrow B, Patel P, Shaw JAG, Cookson WOCM, Permutt MA, Turner RC: Linkage analysis of glucokinase gene with NIDDM in Caucasian pedigrees. Diabetes 41:1496-1500, 1992
19. Kaisaki PJ, Menzel S, Lindner T, Oda N, Fjasanowski I, Sahn 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 mutational hotspot in exon 4. Diabetes 46:528-535, 1997
20. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363, 1996
21. Velho G, Charpentier G, Vaxillaire M, Froguel P, Boccio V: Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care 19:915-919, 1996
22. Stern MP, Duggirala R, Mitchell BD, Reinhart LJ, Shivakumar S, Shppman PA, Uresandi OC, Benavides E, Blangero J, O'Connell P: Evidence for linkage of regions on chromosomes 6 and 11 to plasma glucose concentrations in Mexican Americans. Genome Res 6:724-734, 1996
23. Hams CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, Morrison VA, Wapelhorst B, Spielman RS, Gogolin-Ewens KJ, Shephard JM, Williams SR, Risch N, Hinds D, Iwasaki N, Ogata M, Omori Y, Petzold C, Rietzsch H, Schroder HE, Schulze J, Cox NJ, Menzel S, Boriraj VV, Chen X, Lint LR, Lindner T, Mereu LE, Wang YQ, Xiang K, Yamagata K, Yang Y, Bell GI: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 13:161-166, 1996
24. Knowler WC, Hanson RL, the Pima Diabetes Genes Group: Genomic scan for genetic markers linked to diabetes in Pima Indians (Abstract). Diabetologia 40 (Suppl. 1):A8, 1997
25. Lesage S, Hard EH, Philippi A, Vaxillaire M, Hager J, Passa P, Demenais F, Froguel P, Vionnet N: Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM. Diabetes 44:1213-1217, 1995
26. Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer J, Bryant B, Chan G, Daly M, Forsblom C, Kanninen T, Kirby A, Kruglyak L, Munnelly K, Parkkonen M, Reeve-Daly MP, Weaver A, Brettin T, Duyk G, Lander ES, Groop LC: Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 14:90-94, 1996
27. Bowden DW, Sale M, Howard TD, Qadri A, Spray BJ, Rothschild CB, Akots G, Rich SS, Freedman BI: Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 46:882-886, 1997
28. Withers DJ, Gutierrez JS, Towery H, Burks DJ, Ren J-M, Previs S, Zhang Y, Bernai D, Pons S, Shulman GI, Bonner-Weir S, White MF: Disruption of IRS2 causes type 2 diabetes in mice. Nature 391:900-904, 1998