Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetes

Journal of Medical Genetics

Volumn 42, Issue 1, 2005, Pages 17-25

  Bergholdt, R ^a   Nerup, J ^a   Pociot, Flemming ^a  

^a STENO DIABETES CENTER   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; INTERLEUKIN 1BETA; TRANSCRIPTION FACTOR RUNX1;

ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE DISEASE; CBR1 GENE; CHILD; CHROMOSOME 21Q; CONTROLLED STUDY; DIABETES MELLITUS; DNA SEQUENCE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC LINKAGE; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; KCNE1 GENE; MAJOR CLINICAL STUDY; OLIG2 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RUNX1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TTC3 GENE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; DENMARK; DIABETES MELLITUS, TYPE 1; DNA; GENOME, HUMAN; GENOTYPE; HUMANS; MICROSATELLITE REPEATS; SCANDINAVIA;

EID: 13244276340     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.022004     Document Type: Article

References (58)

1. Borch-Johnsen K. The prognosis of insulin-dependent diabetes mellitus. An epidemiological approach. Dan Med Bull 1989;36:336-48.
2. Pociot F, McDermott MF. Genetics of type 1 diabetes mellitus. Genes Immun 2002;3:235-49.
3. Nerup J, Pociot F, European Consortium for IDDM genome studies. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001;69:1301-13.
4. Pociot F, Karlsen AE, Pedersen CB, Aalund M, Nerup J. Novel analytical methods applied to type 1 diabetes genome scan data. Am J Hum Genet 2004;74:647-60.
5. Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Palley A, Menzel U, Delabor J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Kornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML. The DNA sequence of human chromosome 21. Nature 2000;405:311-19.
6. Perheentupa J. Autoimmune polyendocrinopothy-candidiasis-edodermal dystrophy (APECED). Horm Metab Res 1996;28:353-6.
7. Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L. Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 2000;66:378-92.
8. Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasawas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJE, Antonarakis SE. Common mutations in autoimmune polyendocrinopathy-candidiasis ectodermal dystrophy patients of different origins. Mol Endocrinol 1998;12:1112-19.
9. Meyer G, Badenhoop K. Autoimmune regulator (AIRE) gene on chromosome 21: Implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any-more common manifestations of endocrine autoimmunily. J Endocrinol Invest 2002;25:804-11.
10. Sparre T, Christensen UB, Larsen PM, Fey SJ, Wrzesinski K, Roepstorff P, Mandrup-Poulsen T, Pociot F, Karlsen AE, Nerup J. IL-1 beta induced protein changes in diabetes prone BB rat islets of Langerhans identified by proteome analysis. Diabetolog 2002;45:1550-61.
11. Nerup J, Mandruppoulsen T, Helqvist S, Andersen HU, Pociot F, Reimers JI, Cuartero BG, Karlsen AE, Bierre U, Lorenzen T. On the pathogenesis of IDDM. Diabetolog 1994;37(suppl 2):S82-9.
12. Mathews CE, Leiter EH. Constitutive differences in antioxidant defense status distinguish alloxan-resistant and alloxan-susceptible mice. Free Radic Biol Med 1999;27:449-55.
13. Mathews CE, Dunn BD, Hannigan MO, Huang CK, Leiter EH. Genetic control of neutrophil Superoxide production in diabetes-resistant ALR/Lt mice. Free Radic Biol Med 2002;32:744-51.
14. Tokuhiro S, Yamada R, Chang XT, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshina S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nature Genet 2003;35:341-8.
15. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JAW, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nature Genet 2003;35:349-56.
16. Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans 2002;32:666-9.
17. Lorenzen T, Pociot F, Stilgren L, Kristiansen OP, Johannesen J, Olsen PB, Walmar A, Larsen A, Albrechtsen NC, Eskildsen PC, Andersen OO, Nerup J. Predictors of IDDM recurrence risk in offspring of Danish IDDM patients. Diabetolog 1998;41:666-73.
18. Kruglyak L, Daly MJ, Reevedaly MP, Lander ES. Parametric and nonparametric linkage analysis - a unified multipoint approach. Am J Hum Genet 1996;58:1347-63.
19. Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450-8.
20. Pearce SHS, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998;63:1675-84.
21. Meyer G, Donner H, Herwig J, Bohles H, Usadel KH, Badenhoop K. Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome. Clin Endocrinol 2001;54:335-8.
22. Uedo H, Howson JMM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KMD, 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, Bingley 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 SCL. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423:506-11.
23. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SCL, Jenkins SC, Palmer SM, Balfour KM, Rowe BR, Farrall M, Barnett AH, Bain SC, Todd JA. A genome-wide search for human type-1 diabetes susceptibility genes. Nature 1994;371:130-6.
24. Hashimoto L, Habita C, Beressi JP, Delepine M, Besse C, Cambon-Thomsen A, Deschamps I, Rotter JI, Djoulah S, James MR. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 1994;371:161-4.
25. Concannon P, Gogolin-Ewens KJ, Hinds DA, Wapelhorst B, Morrison VA, Stirling B, Mitra M, Farmer J, Williams SR, Cox NJ, Bell GI, Risch N, Spielman RS. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat Genet 1998;19:292-6.
26. Mein CA, Esposito L, Dunn MG, Johnson GC, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L, Merriman ME, Wilson AJ, Pritchard LE, Cucca F, Barnett AH, Bain SC, Todd JA. A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nat Genet 1998;19:297-300.
27. Cox NJ, Wapelhorst B, Morrison VA, Johnson L, Pinchuk L, Spielman RS, Todd JA, Concannon P. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 2001;69:820-30.
28. Field LL, Tobias R, Magnus T. A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nat Genet 1994;8:189-94.
29. Rowe RE, Wapelhorst B, Bell GI, Risch N, Spielman RS, Concannon P. Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7. Nat Genet 1995;10:240-2.
30. Luo DF, Bui MM, Muir A, Maclaren NK, Thomson G, She JX. Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. Am J Hum Genet 1995;57:911-19.
31. Field LL, Tobias R, Thomson G, Plon S. Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics 1996;33:1-8.
32. Delepine M, Pociot F, Habita C, Hashimoto L, Froguel P, Rotter J, Cambon-Thomsen A, Deschamps I, Djoulah S, Weissenbacn J, Nerup J, Lathrop M, Julier C. Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 1997;60:174-87.
33. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Aimer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
34. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
35. Van-Eerdewegh P, Little RD, Dupuis J, Del-Mastro RG, Falls K, Simon J, Torrey D, Pandit S, McKenny J, Braunschweiger K, Walsh A, Liu ZY, Hayward B, Falz C, Manning SP, Bawa A, Saracino L, Thackston M, Benchekroun Y, Capparell N, Wang M, Adair R, Feng Y, Dubois J, FitzGerald MG, Huang H, Gibson R, Alien KM, Pedan A, Danzig MR, Umland SP, Egan RW, Cuss FM, Rorke S, Clough JB, Holloway JW, Holgate ST, Keith TP. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426-30.
36. Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani N, Gudmundsson G, Grant S, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson E, Matthiasson S, Johannsson H, Gudmundsdottir O, Gurney M, Sainz J, Thorhallsdottir M, Andresdottir M, Frigge M, Topol E, Kong A, Gudnason V, Hakonarson H, Gulcher J, Steransson K. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction anj stroke. Nat Genet 2004;36:233-9.
37. Milunsky A, Neurath PW. Diabetes mellitus in Down's Syndrome. Arch Environ Health 1968;17:372-6,
38. Jeremiah DE, Leyshon GE, Rose T, Francis HW, Elliott RW. Down's syndrome and diabetes. Psychol Med 1973;3:455-7.
39. Van-Goor JC, Massa GG, Hirasing R. Increased incidence and prevalence of diabetes mellitus in Down's syndrome. Arch Dis Child 1997;77:186-PY.
40. Burch PR, Milunsky A. Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet 1969;i:554-8.
41. Amano K, Sago H, Uchikawa C, Suzuki T, Kotliarova S, Nukina N, Epstein C, Yamakawa K. Dosage-dependent over-expression of genes in the trisomic region of Ts1 Cje mouse model for Down syndrome. Hum Mol Genet 2004;13:1333-40.
42. Gretarsdottir S, Sveinbjornsdottir S, Jonsson H, Jakobsson F, Einarsdottir E, Agnarsson U, Shkolny D, Einarsson G, Gudjonsdottir H, Valdimarsson E, Einarsson O, Thorgeirsson G, Hadzik R, Jonsdottir S, Reynisdottir S, Bjarnadottir S, Gudmundsdottir T, Gudlaugsdottir G, Gill R, Lindpointner K, Sainz J, Hannesson H, Sigurdsson G, Frigge M, Kong A, Gudnason V, Stefansson K, Gulcher J. Localization of a susceptibility gene for common forms of stroke to 5q12. Am J Hum Genet 2002;70:593-603.
43. Tsukahara F, Hattori M, Muraki T, Sakaki Y. Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. J Biocnem (Tokyo) 1996;120:820-7.
44. Fingerlin T, Boehnke M, Abecasis G. Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information. Am J Hum Genet 2004;74:432-43.
45. Horikawa Y, Oda N, Cox NJ, Li XQ, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PEH, del-Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze T, Baier U, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nature Genet 2000;26:103-75.
46. Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, C. R. H, Kautzer CR, Lee DH, Marjoribanks C, McDonough DP, Nguyen BTN, Norris MC, Sheehan JB, Shen N, Stern D, Stokowski RP, Thomas DJ, Trulson MO, Vyas KR, Frazer KA, Fodor SPA, Cox DR. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 2001;294:1719-23.
47. Olivier M, Bustos VI, Levy MR, Smick GA, Moreno I, Bushard JM, Almendras AA, Sheppard K, Zierten DL, Aggarwal A, Carlson CS, Foster BD, Vo N, Kelly L, Liu X, Cox DR. Complex high-resolution linkage disequilibrium and haplotype patterns of single-nucleotide polymorphisms in 2.5 Mb of sequence on human chromosome 21. Genomics 2001;78:64-72.
48. Nithiyananthan R, Heward JM, Allahabadia A, Barnett AH, Franklyn JA, Gough SCL. A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: No evidence for association. J Clin Endocrinol Metab 2000;85:1320-2.
49. Shield JPH, Wadsworth EJK, Hassold TJ, Judis LA, Jacobs PA. Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome? Arch Dis Child 1999;81:147-50.
50. Robbins MJ, Sharp RA, Slonim AE, Burr IM. Protection against streptozotocin-induced diabetes by Superoxide dismutase. Diabetolog 1980;18:55-8.
51. Oberley LW. Free radicals and diabetes. Free Radic Biol Med 1988;5:113-24.
52. Fischer U, Hamburger SA. Inhibition of alloxan action in isolated pancreatic islets by Superoxide dismutase, catalase, and a metal chelator. Diabetes 1980;29:213-16.
53. Kubisch HM, Wang J, Bray TM, Phillips JP. Targeted overexpression of Cu/Zn Superoxide dismutase protects pancreatic beta-cells against oxidative stress. Diabetes 1997;46:1563-6.
54. Eizirik DL, Sandler S. Function and metabolism of pancreatic beta-cells maintained in culture following experimentally induced damage. Pnarmacol Toxicol 1989;65;163-8.
55. Nielsen C, Hansen D, Husby S, Jacobsen BB, Lillevang ST. Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 2003;62:492-7.
56. Hug BA, Ahmed N, Robbins JA, Lazar MA. A chromatin immunoprecipitation screen reveals protein kinase C beta as a direct RUNX1 target gene. J Biol Chem 2004;279:825-30.
57. Ardlie KG, Kruglyak L, Seielstad M. Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 2002;3:299-309.
58. Tabor HK, Risch NJ, Myers RM. Opinion: Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 2002;3:391-7.