A novel susceptibility locus for type 1 diabetes on chr12q13 identified by a genome-wide association study

Diabetes

Volumn 57, Issue 4, 2008, Pages 1143-1146

  Hakonarson, Hakon ^a,g   Qu, Hui Qi ^b   Bradfield, Jonathan P ^a   Marchand, Luc ^b   Kim, Cecilia E ^a   Glessner, Joseph T ^a   Grabs, Rosemarie ^b   Casalunovo, Tracy ^a   Taback, Shayne P ^c   Frackelton, Edward C ^a   Eckert, Andrew W ^a   Annaiah, Kiran ^a   Lawson, Margaret L ^d   Otieno, F George ^a   Santa, Erin ^a   Shaner, Julie L ^a   Smith, Ryan M ^a   Onyiah, Chioma C ^a   Skraban, Robert ^a   Chiavacci, Rosetta M ^a   Robinson, Luke J ^a   Stanley, Charles A ^a   Kirsch, Susan E ^e   Devoto, Marcella ^a,f   Monos, Dimitri S ^a,f   Grant, Struan F A ^a   Polychronakos, Constantin ^b,h   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^e MARKHAM STOUFFVILLE HOSPITAL   (Canada)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COHORT ANALYSIS; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 12; CHROMOSOME 6; CHROMOSOME MAP; GENETIC PREDISPOSITION; GENETICS; GENOME; IMMUNOLOGY; RISK ASSESSMENT;

HLA D ANTIGEN;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 6; COHORT STUDIES; DIABETES MELLITUS, TYPE 1; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HLA-D ANTIGENS; HUMANS; RISK ASSESSMENT;

EID: 42449094966     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db07-1305     Document Type: Article

References (22)

1. Todd JA, Bell JI, McDevitt HO: HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329:599-604, 1987
2. Risch N: Assessing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet 40:1-14, 1987
3. Barratt BJ, Payne F, Lowe CE, Hermann R, Healy BC, Harold D, Concan-non P, Gharani N, McCarthy MI, Olavesen MG, McCormack R, Guja C, Ionescu-Tirgoviste C, Undlien DE, Ronningen KS, Gillespie KM, Tuom-ilehto-Wolf E, Tuomilehto J, Bennett ST, Clayton DG, Cordell HJ, Todd JA: Remapping the insulin gene/IDDM2 locus in type 1 diabetes. Diabetes 53:1884-1889, 2004
4. Pugliese A, Zeller M, Fernandez A Jr, Zalcberg LJ, Bartlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD: The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 15:293-297, 1997
5. Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, Goodyer CG, Wickramasinghe S, Colle E, Polychronakos C: Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 15:289-292, 1997
6. Bottini N, Vang T, Cucca F, Mustelin T: Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol 18:207-213, 2006
7. Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, Strachan DP, Dunger DB, Twells RC, Clayton DG, Todd JA: Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 76:773-779, 2005
8. 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
9. Lowe CE, Cooper JD, Brusko T, Walker NM, Smyth DJ, Bailey R, Bourget K, Plagnol V, Field S, Atkinson M, Clayton DG, Wicker LS, Todd JA: Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 39:1074-1082, 2007
10. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bing-ley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC: Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423:506-511, 2003
11. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C: A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 448:591-594, 2007
12. Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678, 2007
13. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JHM, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AAC, Ovington NR, Allen J, Adlem E, Leung H-T, Wallace C, Howson JMM, Guja C, Ionescu-Tirgoviste C, Simmonds MJ, Heward JM, Gough SCL, Dunger DB, Wicker LS, Clayton DG: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 39:857-864, 2007
14. Smyth DJ, Cooper JD, Bailey R, Field S, Burren O, Smink LJ, Guja C, Ionescu-Tirgoviste C, Widmer B, Dunger DB, Savage DA, Walker NM, Clayton DG, Todd JA: A genome-wide association study of nonsynony-mous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38:617-619, 2006
15. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D: Principal components analysis corrects for stratification in genome-wide ssociation studies. Nat Genet 38:904-909, 2006
16. Horvath S, Xu X, Laird NM: The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306, 2001
17. Wilson DB, Wilson MP: Identification and subcellular localization of human rab5b, a new member of the ras-related superfamily of GTPases. J Clin Invest 89:996-1005, 1992
18. Jones RB, Gordus A, Krall JA, MacBeath G: A quantitative protein interaction network for the ErbB receptors using protein microarrays. Nature 439:168-174, 2006
19. Zeggini E, Weedon MN, Lindgren CM, et al.: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316:1336-1341, 2007
20. Saxena R, Voight BF, Lyssenko V, et al.: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316:1331-1336, 2007
21. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, et al.: A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 39:770-775, 2007
22. Scott LJ, Mohlke KL, Bonnycastle LL, et al.: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341-1345, 2007