A-β- subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome

Diabetes Care

Volumn 32, Issue 5, 2009, Pages 873-877

  Haaland, Wade C ^a   Scaduto, Diane I ^a   Maldonado, Mario R ^a,b   Mansouri, Dena L ^a   Nalini, Ramaswami ^a,c   Iyer, Dinakar ^a   Patel, Sanjeet ^a   Guthikonda, Anu ^a   Hampe, Christiane S ^d   Balasubramanyam, Ashok ^a,c   Metzker, Michael L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NOVARTIS PHARMA AG   (Switzerland)

^c BEN TAUB GENERAL HOSPITAL   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; NEUROGENIC DIFFERENTIATION FACTOR; TRANSCRIPTION FACTOR PAX4; TRANSCRIPTION FACTOR PDX 1;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETIC KETOACIDOSIS; DISEASE CLASSIFICATION; DNA POLYMORPHISM; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INSULIN DEPENDENCE; MALE; MONOGENIC DISORDER; NON INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PANCREAS ISLET CELL FUNCTION; PHENOTYPE; PROMOTER REGION;

ADULT; AUTOANTIBODIES; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC VARIATION; GLUCOKINASE; HEMOGLOBIN A, GLYCOSYLATED; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEPATOCYTE NUCLEAR FACTOR 4; HOMEODOMAIN PROTEINS; HUMANS; INSULIN; INSULIN-SECRETING CELLS; ISLETS OF LANGERHANS; MALE; MIDDLE AGED; PAIRED BOX TRANSCRIPTION FACTORS; TRANS-ACTIVATORS;

EID: 65949115938     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc08-1529     Document Type: Article

References (21)

1. Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF Jr, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS. Replicating genotype-phenotype associations. Nature 2007;447:655-660 (Pubitemid 46889722)
2. Umpierrez GE. Ketosis-prone type 2 diabetes: time to revise the classification of diabetes. Diabetes Care 2006;29:2755-2757
3. Maldonado M, Hampe CS, Gaur LK, D'Amico S, Iyer D, Hammerle LP, Bolgiano D, Rodriguez L, Rajan A, Lernmark Å, Balasubramanyam A. Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and ß-cell functional classification, prospective analysis, and clinical outcomes. J Clin Endocrinol Metab 2003;88:5090-5098 (Pubitemid 37452699)
4. Balasubramanyam A, Garza G, Rodriguez L, Hampe CS, Gaur L, Lernmark Å, Maldonado MR. Accuracy and predictive value of classification schemes for ketosisprone diabetes. Diabetes Care 2006;29:2575-2579
5. Nalini R, Gaur LK, Maldonado M, Hampe CS, Rodriguez L, Garza G, Lernmark A, Balasubramanyam A. HLA class II alleles specify phenotypes of ketosis-prone diabetes. Diabetes Care 2008;31:1195-1200
6. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001;345:971-980
7. Mauvais-Jarvis F, Smith SB, May CL, Leal SM, Gautier J-F, Molokhia M, Riveline J-P, Rajan AS, Kevorkian J-P, Zhang S, Vexiau P, German MS, Vaisse C. PAX4 gene variations predispose to ketosisprone diabetes. Hum Mol Genet 2004;13:3151-3159 (Pubitemid 40045267)
8. Cerf ME. Transcription factors regulating β-cell function. Eur J Endocrinol 2006;155:671-679
9. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract End Met 2008;4:200-213
10. Boutin P, Gresh L, Cisse A, Hara M, Bell G, Babu S, Eisenbarth G, Froguel P. Missense mutation Gly574Ser in the transcription factor HNF-1alpha is a marker of atypical diabetes mellitus in African-American children. Diabetologia 1999;42:380-381 (Pubitemid 29111447)
11. Collet C, Ducorps M, Mayaudon H, Dupuy O, Ceppa F, Boutin P, Froguel P, Bauduceau B. Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes. Diabete Metab 2002;28:39-44 (Pubitemid 34168749)
12. Navalón-García K, Mendoza-Alcantar L, Díaz-Vargas ME, Martínez-Godínez MA, Reyna-Garfias H, Aguilar-Salinas CA, Riba L, Canizales-Quinteros S, Villarreal-Molina T, González-Chávez A, Argueta-Villamar V, Tusié-Luna MT, Miliar-García A. HNF-1α G574S is a functional variant with decreased transactivation activity. Diabet Med 2006;23:1295-1300
13. Gragnoli C, Stanojevic V, Gorini A, Von Preussenthal GM, Thomas MK, Habener JF. IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes. Metabolism 2005;54:983-988 (Pubitemid 41033096)
14. Weng J, Macfarlane WM, Lehto M, Gu HF, Shepherd LM, Ivarsson SA, Wibell L, Smith T, Groop LC. Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations. Diabetologia 2001;44:249-258 (Pubitemid 32156212)
15. Elbein SC, Teng K, Eddings K, Hargrove D, Scroggin E. Molecular scanning analysis of hepatocyte nuclear factor 1α (TCF1) gene in typical familial type 2 diabetes in African Americans. Metabolism 2000;49:280-284 (Pubitemid 30090898)
16. Mauvais-Jarvis F, Boudou P, Sobngwi E, Riveline JP, Kevorkian JP, Villette JM, Porcher R, Vexiau P, Gautier JF. The polymorphism Gly574Ser in the transcription factor HNF-1a is not a marker of adultonset ketosis-prone atypical diabetes in Afro-Caribbean patients. Diabetologia 2003;46:728-729 (Pubitemid 36808194)
17. Cockburn BN, Bermano G, Boodram L-LG, Teelucksingh S, Tsuchiya T, Mahabir D, Allan AB, Stein R, Docherty K, Bell GI. Insulin Promoter Factor-1 Mutations and Diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. J Clin Endocrinol Metab 2004;89:971-978 (Pubitemid 38269920)
18. Mantovani R. A survey of 178 NF-Y binding CCAAT boxes. Nucleic Acid Res 1998;26:1135-1143 (Pubitemid 28291681)
19. Tomei L, Cortese R, Francesco RD. A POU-A related region dictates DNA binding specificity of LFB1/HNF1 by orienting the two XL-homeodomains in the dimer. EMBO J 1992;11:4119-4129
20. Muoio DM, Newgard CB. Molecular and metabolic mechanisms of insulin resistance and β-cell failure in type 2 diabetes. Nat Rev Mol Cell Biol 2008;9:193-205
21. Metzker ML. Emerging technologies in DNA sequencing. Genome Res 2005;15:1767-1776 (Pubitemid 41780407)