CHOP T/C and C/T haplotypes contribute to early-onset type 2 diabetes in Italians

Journal of Cellular Physiology

Volumn 217, Issue 2, 2008, Pages 291-295

  Gragnoli, Claudia ^a,b,c,d  

^a Bios Biotech Multi Diagnostic Health Center   (Italy)

^b PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^c PENN STATE COLLEGE OF MEDICINE   (United States)

^d Temple University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGION; ADULT; ARTICLE; CHOP GENE; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; ITALY; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; CHROMOSOME 12; ETHNOLOGY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; ONSET AGE; RISK; RISK ASSESSMENT; RISK FACTOR;

DDIT3 PROTEIN, HUMAN; GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 153;

5' UNTRANSLATED REGIONS; ADULT; AGE OF ONSET; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 12; DIABETES MELLITUS, TYPE 2; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HOMOZYGOTE; HUMANS; ITALY; LINKAGE DISEQUILIBRIUM; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT; RISK FACTORS; TRANSCRIPTION FACTOR CHOP;

EID: 51449088830     PISSN: 00219541     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcp.21553     Document Type: Article

References (42)

1. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES. 2000. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80.
2. Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC. 1992. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1:11-15.
3. Barsyte-Lovejoy D, Mao DY, Penn LZ. 2004. c-Myc represses the proximal promoters of GADD45a and GADD153 by a post-RNA polymerase II recruitment mechanism. Oncogene 23:3481-3486.
4. Batchvarova N, Wang XZ, Ron D. 1995. Inhibition of adipogenesis by the stress-induced protein CHOP (Gadd153). EMBO J 14:4654-4661.
5. Bektas A, Suprenant ME, Wogan LT, Plengvidhya N, Rich SS, Warram JH, Krolewski AS, Doria A. 1999. Evidence of a novel type 2 diabetes locus 50 cM centromeric to NIDDM2 on chromosome12q. 48:2246-2251.
6. Butler AE, Janson J, Bonner-Weir S, Ritzel R, Rizza RA, Butler PC. 2003. Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes. Diabetes 52:102-110.
7. Cauchi S, El Achhab Y, Choquet H, Dina C, Krempler F, Weitgasser R, Nejjari C, Patsch W, Chikri M, Meyre D, Froguel P. 2007. TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: A global meta-analysis. J Mol Med 85:777-782.
8. DeFronzo RA, Bonadonna RC, Ferrannini E. 1992. Pathogenesis of NIDDM.A balanced overview. Diabetes Care 15:318-368.
9. Duggirala R, Blangero J AL, Dyer TD, Williams KL, Leach RJ, O'Connell P, Stern MP. 1999. Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 64:1127-1140.
10. Ehm MG, Karnoub MC, Sakul H, Gottschalk K, Holt DC, Weber JL, Vaske D, Briley D, Briley L, Kopf J, McMillen P, Nguyen Q, Reisman M, Lai EH, Joslyn G, Shepherd NS, Bell C, Wagner MJ, Burns DK. 2000. Genomewide search for type 2 diabetes susceptibility genes in four American populations. Am J Hum Genet 66:1871-1881.
11. Elouil H, Cardozo AK, Eizirik DL, Henquin JC, Jonas JC. 2005. High glucose and hydrogen peroxide increase c-Myc and haeme-oxygenase I mRNA levels in rat pancreatic islets without activating NFkappaB. Diabetologia 48:496-505.
12. Gaunt TR, Rodriguez S, Day IN. 2007. Cubic exact solutions for the estimation of pairwise haplotype frequencies: Implications for linkage disequilibrium analyses and a web tool 'CubeX'. BMC Bioinformatics 8:428.
13. Ghosh S, Watanabe RVT, Hauser ER, Magnuson VL, Langefeld CD, Ally DS, Mohlke KL, et al. 2000. The Finland-United States Investigation Of Non-insulin-dependent dabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am J Hum Genet 67:1174-1185.
14. Gloyn A, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy J, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. 2003. 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 52:568-572.
15. Gragnoli C, Cronsell J. 2007. PSMD9 gene variants within NIDDM2 may rarely contribute to type 2 diabetes. J Cell Physiol 212:568-571.
16. Gragnoli C, Pierpaoli L, Piumelli N, Chiaramonte F. 2007. Linkage studies for T2D in Chop and C/EBPbeta chromosomal regions in Italians. J Cell Physiol 213:552-555.
17. Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, Morrison VA, Wapelhorst B, Spielman RS, Gogolin-Ewens KJ, Shepard JM, Williams SR, Risch N, Hinds D, Iwasaki N, Ogata M, Omori Y, Petzold C, Rietzch H, Schroder HE, Schulze J, Cox NJ, Menzel S, Boriraj W, Chen X, et al. 1996. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2 [see comments]. Nat Genet 13:161-166.
18. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI. 2000. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus [In Process Citation]. Nat Genet 26:163-175.
19. Jonas JC, Sharma A, Hasenkamp W, Ilkova H, Patane G, Laybutt R, Bonner-Weir S, Weir GC. 1999. Chronic hyperglycemia triggers loss of pancreatic beta cell differentiation in an animal model of diabetes. J Biol Chem 274:14112-14121.
20. King H, Aubert RE, Herman WH. 1998. Global burden of diabetes, 1995-2025: Prevalence, numerical estimates, and projections. Diab Care 21:1414-1431.
21. Laybutt DR, Weir GC, Kaneto H, Lebet J, Palmiter RD, Sharma A, Bonner-Weir S. 2002. Overexpression of c-Myc in beta-cells of transgenic mice causes proliferation and apoptosis, downregulation of insulin gene expression, and diabetes. Diabetes 51:1793-1804.
22. Lehtovirta M, Kaprio J, Forsblom C, Eriksson J, Tuomilehto J, Groop L. 2000. Insulin sensitivity and insulin secretion in monozygotic and dizygotic twins. Diabetologia 43:285-293.
23. Medici F, Hawa M, Ianari A, Pyke DA, Leslie RD. 1999. Concordance rate for type II diabetes mellitus in monozygotic twins: Actuarial analysis [see comments]. Diabetologia 42:146-150.
24. Meigs JB, Panhuysen CIMMR, Wilson PWF, Cupples LA. 2002. A genome-wide scan or loci linked to plasma levels of glucose and HbA1c in a community-based sample of Caucasian pedigrees. Diabetes 51:833-840.
25. Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V, Ghoussaini M, Wachter C, Hercberg S, Charpentier G, Patsch W, Pattou F, Charles MA, Tounian P, Clement K, Jouret B, Weill J, Maddux BA, Goldfine ID, Walley A, Boutin P, Dina C, Froguel P. 2005. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 37:863-867.
26. Nakatani Y, Kaneto H, Kawamori D, Yoshiuchi K, Hatazaki M, Matsuoka TA, Ozawa K, Ogawa S, Hori M, Yamasaki Y, Matsuhisa M. 2005. Involvement of endoplasmic reticulum stress in insulin resistance and diabetes. J Biol Chem 280:847-851.
27. Ohoka N, Hattori T, Kitagawa M, Onozaki K, Hayashi H. 2007. Critical and functional regulation of CHOP (C/EBP homologous protein) through the N-terminal portion. J Biol Chem 282:35687-35694.
28. Ozcan U, Cao Q, Yilmaz E, Lee AH, Iwakoshi NN, Ozdelen E, Tuncman G, Gorgun C, Glimcher LH, Hotamisligil GS. 2004. Endoplasmic reticulum stress links obesity, insulin action, and type 2 diabetes. Science 306:457-461.
29. Polonsky KS, Sturis J, Bell GI. 1996. Seminars in Medicine of the Beth Israel Hospital, Boston. Non-insulin-dependent diabetes mellitus- a genetically programmed failure of the beta cell to compensate for insulin resistance. N Engl J Med 334:777-783.
30. Sakuraba H, Mizukami H, Yagihashi N, Wada R, Hanyu C, Yagihashi S. 2002. Reduced beta-cell mass and expression of oxidative stress-related DNA damage in the islet of Japanese Type II diabetic patients. Diabetologia 45:85-96.
31. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Bostrom K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Rastam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjogren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S. 2007. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316:1331-1336.
32. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. 2007. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341-1345.
33. van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA. 1992. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368-371.
34. Velho G, Robert JJ. 2002. Maturity-onset diabetes of the young (MODY): Genetic and clinical characteristics. Horm Res 57:29-33.
35. Vionnet N, Hani El H, Dupont S, Gallina S, Francke S, Dotte S, De Matos F, Durand E, Lepretre F, Lecoeur C, Gallina P, Zekiri L, Dina C, Froguel P. 2000. Genomewide search for type 2 diabetes-susceptibility genes in French whites: Evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24. Am J Hum Genet 67:1470-1480.
36. Warram JH, Martin BC, Krolewski AS, Soeldner JS, Kahn CR. 1990. Slow glucose removal rate and hyperinsulinemia precede the development of type II diabetes in the offspring of diabetic parents. Ann Intern Med 113:909-915.
37. Welsh M, Welsh N, Nilsson T, Arkhammar P, Pepinsky RB, Steiner DF, Berggren PO. 1988. Stimulation of pancreatic islet beta-cell replication by oncogenes. Proc Natl Acad Sci USA 85:116-120.
38. Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O'Rahilly S, Frayling TM, Bell JI, Lathrop GM, Bennett A, Dhillon R, Fletcher C, Groves CJ, Jones E, Prestwich P, Simecek N, Rao PV, Wishart M, Bottazzo GF, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI. 2001. A genomewide scan for loci predisposing to type 2 diabetes in a UK. population (the Diabetes UK Warren 2 Repository): Analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome1q. Am J Hum Genet 69:553-569.
39. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, Burton PR, Clayton DG, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Davison D, Easton D, Evans D, Leung HT, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop DT, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Mathew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop GM, Connell J, Dominiczak A, Braga Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hider SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Ferreira T, Pereira-Gale J, Hallgrimsdottir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Compston A, Ouwehand NJ, Samani MR, Isaacs JD, Morgan AW, Wilson GD, Ardern-Jones A, Berg J, Brady A, Bradshaw N, Brewer C, Brice G, Bullman B, Campbell J, Castle B, Cetnarsryj R, Chapman C, Chu C, Coates N, Cole T, Davidson R, Donaldson A, Dorkins H, Douglas F, Eccles D, Eeles R, Elmslie F, Evans DG, Goff S, Goodman S, Goudie D, Gray J, Greenhalgh L, Gregory H, Hodgson SV, Homfray T, Houlston RS, Izatt L, Jackson L, Jeffers L, Johnson-Roffey V, Kavalier F, Kirk C, Lalloo F, Langman C, Locke I, Longmuir M, Mackay J, Magee A, Mansour S, Miedzybrodzka Z, Miller J, Morrison P, Murday V, Paterson J, Pichert G, Porteous M, Rahman N, Rogers M, Rowe S, Shanley S, Saggar A, Scott G, Side L, Snadden L, Steel M, Thomas M, Thomas S, McCarthy MI, Hattersley AT. 2007. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316:1336-1341.
40. Zhao JH, Curtis D, Sham PC. 2000. Model-free analysis and permutation tests for allelic associations. Hum Hered 50:133-139.
41. Zhao Q, Wang J, Levichkin IV, Stasinopoulos S, Ryan MT, Hoogenraad NJ. 2002. A mitochondrial specific stress response in mammalian cells. EMBO J 21:4411-4419.
42. Zhou YP, Sreenan S, Pan CY, Currie KP, Bindokas VP, Horikawa Y, Lee JP, Ostrega D, Ahmed N, Baldwin AC, Cox NJ, Fox AP, Miller RJ, Bell GI, Polonsky KS. 2003. A 48-hour exposure of pancreatic islets to calpain inhibitors impairs mitochondrial fuel metabolism and the exocytosis of insulin. Metabolism 52:528-534.