Diabetes genetics. A seventh sense for the successful sequel of 'come together': "The genotypes and phenotypes of diabetes". Bergen, Norway. April 22-26, 2009. 2nd Meeting of 'EASD Study Group on Genetics of Diabetes' and 44th Annual Meeting of the 'Scandinavian Society for the Study of Diabetes'

Journal of the Pancreas

Volumn 10, Issue 4, 2009, Pages 466-471

  Njølstad, Pål Rasmus ^a,b   Molven, Anders ^a,b   Groop, Leif ^c,d  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c LUND UNIVERSITY DIABETES CENTRE   (Sweden)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Diabetes mellitus; Exocrine pancreatic insufficiency; Genes; Genetics; Genome wide association study; Polymorphism; Single nucleotide

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; NOTCH2 RECEPTOR; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; POTASSIUM CHANNEL KCNQ1; TRANSCRIPTION FACTOR 7 LIKE 2;

CONFERENCE PAPER; DIABETES MELLITUS; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MEDICAL RESEARCH; MOLECULAR GENETICS; NONHUMAN; PANCREAS ISLET BETA CELL; PATHOGENESIS; PHARMACOGENETICS; WORKSHOP;

DIABETES MELLITUS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 68649089084     PISSN: None     EISSN: 15908577     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (36)

1. Come together. Nat Genet 1997; 17:123-4.
2. McCarthy MI, Hattersley AT. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 2008; 57:2889-98.
3. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000; 26:163-75.
4. Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V, et al. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 2005; 37:863-7.
5. Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 2006; 38:320-3.
6. Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J, Zeggini E, et al. Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes 2008; 57:3161-5.
7. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000; 26:76-80.
8. Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, et al. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003; 52:568-72.
9. Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, et al. A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population. Diabetes 2005; 54:2487-91.
10. Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007; 39:951-3.
11. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007; 316:1331-6.
12. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007; 316:1336-41.
13. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, et al. A genomewide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007; 316:1341-5.
14. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007; 445:881-5.
15. Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40:638-45.
16. Yasuda K, Miyake K, Horikawa Y, Hara K, Osawa H, Furuta H, et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet 2008; 40:1092-7.
17. McCarthy MI. What will genome wide association studies mean to the clinical endocrinologist? Clin Endocrinol Metab. 2009; in press.
18. Goldstein DB. Common genetic variation and human traits. N Engl J Med 2009; 360:1696-8.
19. Hirschhorn JN. Genomewide association studies: Illuminating biologic pathways. N Engl J Med 2009; 360:1699-01.
20. Kraft P, Hunter DJ. Genetic risk prediction: Are we there yet? N Engl J Med 2009; 360:1701-3.
21. Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med 2009; 360:1759-68.
22. Lyssenko V, Almgren P, Anevski D, Perfekt R, Lahti K, Nissén M, et al. Predictors of and longitudinal changes in insulin sensitivity and secretion preceding onset of type 2 diabetes. Diabetes 2005; 54:166-74.
23. Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med 2008; 359:2220-32.
24. Ellard S, Bellanné-Chantelot C, Hattersley AT; European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008;51:546-53.
25. Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007; 104:15040-4.
26. Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57:1034-42.
27. Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, et al. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008; 57:1131-5.
28. Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007; 4:e118.
29. Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004; 53:2713-8.
30. Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355:467-77.
31. Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009; 18:2257-65.
32. Haldorsen IS, Vesterhus M, Raeder H, Jensen DK, Søvik O, Molven A, Njølstad PR. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet Med 2008; 25:782-7.
33. Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 2006; 38:54-62.
34. Raeder H, Haldorsen IS, Ersland L, Grüner R, Taxt T, Søvik O, et al. Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase. Diabetes 2007; 56:444-9.
35. Vesterhus M, Raeder H, Johansson S, Molven A, Njølstad PR. Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. Diabetes Care 2008; 31:306-10.
36. Kawamori D, Kurpad AJ, Hu J, Liew CW, Shih JL, Ford EL, et al. Insulin signaling in alpha cells modulates glucagon secretion in vivo. Cell Metab. 2009; 9:350-61.