G/T Substitution in Intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes

Diabetes

Volumn 57, Issue 10, 2008, Pages 2843-2850

  Trégouet, David Alexandre ^a,b   Groop, Per Henrik ^c,d   McGinn, Steven ^e   Forsblom, Carol ^c,d   Hadjadj, Samy ^f   Marre, Michel ^g,h   Parving, Hans Henrik ⁱ   Tarnow, Lise ^j   Telgmann, Ralph ^k   Godefroy, Tiphaine ^a,b   Nicaud, Viviane ^a,b   Rousseau, Rachel ^a,b   Parkkonen, Maikki ^d   Hoverfält, Anna ^d   Gut, Ivo ^e   Heath, Simon ^e   Matsuda, Fumihiko ^e   Cox, Roger ^l   Kazeem, Gbenga ^m   Farrall, Martin ^m   Gauguier, Dominique ^m   Brand Herrmann, Stefan Martin ^k   Cambien, Francois ^a,b   Lathrop, Mark ^e   Vionnet, Nathalie ^a,b   more..

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^e CEA Fontenay aux Roses Bâtiment 61   (France)

^f POITIERS UNIVERSITY HOSPITAL   (France)

^g BICHAT HOSPITAL   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

ⁱ Rigshospitalet   (Denmark)

^j STENO DIABETES CENTER   (Denmark)

^k UNIVERSITY OF MÜNSTER   (Germany)

^l MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^m UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL CELL CULTURE; APOPTOSIS; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DIABETIC NEPHROPATHY; DISEASE PREDISPOSITION; DNA FLANKING REGION; GENE; GENE FREQUENCY; GENE REPLICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GLOMERULAR STRUCTURE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; INTRON; MAJOR CLINICAL STUDY; MARKER GENE; NONHUMAN; PRIORITY JOURNAL; RAT; RISK ASSESSMENT; RNA ISOLATION; SINGLE NUCLEOTIDE POLYMORPHISM; UNC13B GENE; ANIMAL; CELL LINE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HELA CELL; RISK; RISK FACTOR; TUMOR CELL LINE;

NERVE PROTEIN; UNC13B PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ANIMALS; CELL LINE; CELL LINE, TUMOR; DIABETES MELLITUS, TYPE 1; DIABETIC NEPHROPATHIES; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HELA CELLS; HUMANS; INTRONS; NERVE TISSUE PROTEINS; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RATS; RISK FACTORS;

EID: 58149330673     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db08-0073     Document Type: Article

References (41)

1. Andersen AR, Christiansen JS, Andersen JK, Kreiner S, Deckert T: Diabetic nephropathy in type 1 (insulin-dependent) diabetes: An epidemiological study. Diabetologia 25:496-501, 1983
2. Borch-Johnsen K, Kreiner S: Proteinuria value as predictor of cardiovascular mortality in insulin dependent diabetes mellitus. BMJ 294:1651-1654, 1987
3. Seaquist ER, Goetz FC, Rich S, Barbosa J: Familial clustering of diabetic kidney disease: evidence for genetic susceptibility to diabetic nephropa- thy. N Engl J Med 320:1161-1165, 1989
4. Quinn M, Angelico MC, Warram JH, Krolewski AS: Familial factors determine the development of diabetic nephropathy in patients with IDDM. Diabetologia 39:940-945, 1996
5. Earle K, Walker J, Hill C, Viberti GC: Familial clustering of cardiovascular disease in patients with insulin-dependent diabetes and nephropathy. N Engl J Med 326:673-677, 1992
6. Diabetes Control and Complications Trial Research Group: Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. Diabetes 46:1829-1839, 1997
7. Tarnow L, Groop PH, Hadjadj S, Kazeem G, Cambien F, Marre M, Forsblom C, Parving HH, Tregouet D, Thevard A, Farrall M, Gut I, Gauguier D, Cox R, Matsuda F, Lathrop M, Vionnet N, for the EURAGEDIC Consortium: European rational approach for the genetics of diabetic complications: EURAGEDIC: patient populations and strategy. Nephrol Dial Transplant 23:161-168, 2008
8. Thorn L, Forsblom C, Fagerudd J, Thomas MC, Pettersson-Fernholm K, Saraheimo M, Waden J, Ronnback M, Rosengård-Barlund M, af Bjorkesten C-G, Taskinen M-R, Groop P-H, on behalf of the FinnDiane Study Group: Metabolic syndrome in type 1 diabetes: Association with diabetic nephrop- athy and glycaemic control (the FinnDiane Study). Diabetes Care 28:2019 2024, 2005
9. Vionnet N, Tregouët D, Kazeem G, Gut I, Groop PH, Tarnow L, Parving HH, Hadjadj S, Forsblom C, Farrall M, Gauguier D, Cox R, Matsuda F, Heath S, Thévard A, Rousseau R, Cambien F, Marre M, Lathrop M: Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: Strongest evidence for association with a variant in the promoter region of the adiponectin gene. Diabetes 55:3166-3174, 2006
10. Dizier MH, Bouzigon E, Guilloud-Bataille M, Bétard C, Bousquet J, Charpin D, Gormand F, Hochez J, Just J, Lemainque A, Le Moual N, Matran R, Neukirch F, Oryszczyn MP, Paty E, Pin I, Vervloet D, Kauffmann F, Lathrop M, Demenais F, Annesi-Maesano I: Genome screen in the French EGEA study: Detection of linked regions shared or not shared by allergic rhinitis and asthma. Genes Immun 6:95-102, 2005
11. Takahashi M, Matsuda F, Margetic N, Lathrop M: Automated identification of single nucleotide polymorphisms from sequencing data. J Bioinform Comput Biol 1:253-265, 2003
12. Dempster AP, Laird NM, Rubin DB: Maximum likelihood from incomplete data via the EM algotrithm. J R Stat Soc B 39:1-38, 1977
13. Nakajima K, Tanaka Y, Nomiyama T, Ogihara T, Piao L, Sakai K, Onuma T, Kawamori R: Chemokine receptor genotype is associated with diabetic nephropathy in Japanese with type 2 diabetes. Diabetes 51:238-242, 2002
14. Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C, Rychlik I, Cerna M, Romzova M, de Heer E, Baelde H, Bakker SJ, Zirie M, Rondeau E, Mathieson P, Saleem MA, Meyer J, Köppel H, Sauerhoefer S, Bartram CR, Nawroth P, Hammes HP, Yard BA, Zschocke J, van der Woude FJ: Carnosine as a protective factor in diabetic nephropathy: Association with a leucine repeat of the carnosinase gene CNDP1. Diabetes 54:2320 2327, 2005
15. Sale MM, Smith SG, Mychaleckyj JC, Keene KL, Langefeld CD, Leak TS, Hicks PJ, Bowden DW, Rich SS, Freedman BI: Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes 56:2638-2642, 2007
16. Kanková K, Stejskalová A, Pácal L, Tschoplová S, Hertlová M, Krusová D, Izakovicová-Hollá L, Beránek M, Vaskù A, Barral S, Ott J: Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach. Diabetologia 50:990-999, 2007
17. Pinizzotto M, Castillo E, Fiaux M, Temler E, Gaillard RC, Ruiz J: Paraoxo- nase2 polymorphisms are associated with nephropathy in type II diabetes. Diabetologia 44:104-107, 2001
18. Hager J, Hansen L, Vaisse C, Vionnet N, Philippi A, Poller W, Velho G, Carcassi C, Contu L, Julier C, Cambien F, Passa P, Lathrop M, Kindsvogel W, Demenais F, Nishimura E, Forguel P: A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Nat Genet 9:299-304, 1995
19. Kaisaki PJ, Delépine M, Woon PY, Sebag-Montefiore L, Wilder SP, Menzel S, Vionnet N, Marion E, Riveline JP, Charpentier G, Schurmans S, Levy JC, Lathrop M, Farrall M, Gauguier D: Polymorphisms in type II SH2 domain- containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome Diabetes 53:1900-1904, 2004
20. Ninio E, Tregouet D, Carrier JL, Stengel D, Bickel C, Perret C, Rupprecht HJ, Cambien F, Blankenberg S, Tiret L: Platelet-activating factor-acetylhy- drolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease. Hum Mol Genet 13:1341-1351, 2004
21. Devlin B, Roeder K: Genomic control for association studies. Biometrics 55:997-1004, 1999
22. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D: Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-909, 2006
23. Sauer S, Lechner D, Berlin K, Plancon C, Heuermann A, Lehrach H, Gut IG: Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay. Nucleic Acid Res 28:E100, 2000
24. Fisher RA: Statistical Methods for Research Workers. 13th ed. London, Oliver & Loyd, 1925
25. Li J, Ji L: Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity 95:221-227, 2005
26. Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotypes maps. Bioinformatics 21:263-265, 2005
27. Tregouet DA, Garelle V: A new JAVA interface implementation of THE- SIAS: testing haplotype effects in association studies. Bioinformatics 23:1038-1039, 2007
28. Paul SR, Donner A: A comparison of tests of homogeneity of odds ratio in k 2x2 tables. Stat Med 8:1455-1468, 1989
29. Skryabin BV, Kremerskothen J, Vassilacopoulou D, Disotell TR, Kapitonov VV, Jurka J, Brosius J: The BC: 200 RNA gene and its neural expression are conserved in Anthropoidea (primates). J Mol Evol 47:677-685, 1998
30. Saleem MA, O'Hare MJ, Reiser J, Coward RJ, Inward CD, Farren T, Xing CY, Ni L, Mathieson PW, Mundel P: A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. JAm Soc Nephrol 13:630-638, 2002
31. Ewens KG, George RA, Sharma K, Ziyadeh FN, Spielman RS: Assessment of 115 candidate genes for diabetic nephropathy by transmission/disequilibrium test. Diabetes 54:3305-3318, 2005
32. Parle-McDermott A, Pangilinan F, Mills JL, Kirke PN, Gibney ER, Troendle J, O'Leary VB, Molloy AM, Conley M, Scott JM, Brody LC: The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am J Med Genet A 143:1174-1180, 2007
33. Greene E, Mahishi L, Entezam A, Kumari D, Usdin K: Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acid Res 35:3383-3390, 2007
34. Qu HQ, Montpetit A, Ge B, Hudson TJ, Polychronakos C: Toward further mapping of the association between the IL2RA locus and type 1 diabetes. Diabetes 56:1174-1176, 2007
35. Song Y, Ailenberg M, Silverman M: Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephrop- athy. Kidney Int 53:1689-1695, 1998
36. Song Y, Ailenberg M, Silverman M: Human munc13 is a diacylglycerol receptor that induces apoptosis and may contribute to renal cell injury in hyperglycemia. Mol Biol Cell 10:1609-1619, 1999
37. Shankland SJ: The podocyte's response to injury: Role in proteinuria and glomerulosclerosis. Kidney Int 69:2131-2147, 2006
38. Susztak K, Raff AC, Schiffer M, Bottinger EP: Glucose-induced reactive oxygen species cause apoptosis of podocytes and podocyte depletion at the onset of diabetic nephropathy. Diabetes 55:225-233, 2006
39. Meyer TW, Bennett PH, Nelson RG: Podocyte number predicts long-term urinary albumin excretion in Pima Indians with type II diabetes and microalbuminuria. Diabetologia 42:1341-1344, 1999
40. Pagtalunan ME, Miller PL, Jumping-Eagle S, Nelson RG, Myers BD, Rennke HG, Coplon NS, Sun L, Meyer TW: Podocyte loss and progressive glomer- ular injury in type II diabetes. J Clin Invest 99:342-348, 1997
41. Steffes MW, Schmidt D, McCrery R, Basgen JM, International Diabetic Nephropathy Study Group: Glomerular cell number in normal subjects and in type 1 diabetic patients. Kidney Int 59:2104-2113, 2001