The search for IDDM susceptibility genes: The next generation

Diabetes

Volumn 45, Issue 5, 1996, Pages 544-551

  Owerbach, David ^a   Gabbay, Kenneth H ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENT; DNA; HLA ANTIGEN; INSULIN; MAJOR HISTOCOMPATIBILITY ANTIGEN; MONOCLONAL ANTIBODY; PROTEIN; SOMATOMEDIN B; STEROID 21 MONOOXYGENASE; TRANSCRIPTION FACTOR; TUMOR NECROSIS FACTOR; TYROSINE 3 MONOOXYGENASE;

ALLELE; CHROMOSOME 11P; CHROMOSOME 6P; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; HAPLOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; SEROLOGY; TRANSGENE; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0029987192     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.45.5.544     Document Type: Review

References (79)

1. Platz P, Jakobsen BK, Morling N, Ryder LP, Sveygaard A, Thomsen M, Cristy M, Kromann H, Benn J, Nerup J, Green A, Hauge. HLA-D and HLA-DR antigens in genetic analysis of insulin-dependent diabetes mellitus. Diabetologia 21:1108-1115, 1981
2. Wolf E, Spencer KM, Cudworth AG: The genetic susceptibility to type I (insulin-dependent) diabetes: analysis of the HLA-DR association. Diabetologia 24:224-230, 1983
3. Walker A, Cudworth AG: Type I (insulin-dependent) diabetic multiplex families: mode of genetic transmission. Diabetes 29:1036-1039, 1980
4. Bell GI, Horita S, Karam JH: A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176-83, 1984
5. Hitman GA, Tarn AC, Winter RM, Drummond V, Williams LC, Jowett NI, Bottazzo GF, Galton DJ: Type I (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11. Diabetologia 28.218-222, 1985
6. Julier C, Hyer RN, Davies J, Merlin F, Soularue P, Briant L, Cathelineau G, Deschamps I, Rotter JI, Froguel P, Boitard C, Bell JI, Lathrop GM: Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 354:155-159, 1991
7. Bain SC, Prins JB, Hearne CM, Rodriques NR, Rowe BR, Pritchard LE, Ritchie RJ, Hall JRS, Undlien DE, Ronningen KS, Dunger DB, Barnett AH, Todd JA: Insulin gene region-encoded susceptibility to type I diabetes is not restricted to HLA-DR4 positive individuals. Nature Genet 2:212-215, 1992
8. Owerbach D, Gabbay KH: Linkage of the VNTR/insulin-gene and type I diabetes mellitus: increased gene sharing in affected sibling pairs. Am J Hum Genet 54:909-912, 1994
9. 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 371:130-136, 1994
10. Hashimoto L, Habita C, Beressi JP, Delepine M, Besse C, Cambon-Thomsen A, Deschamps I, Rotter JI, Djoulah S, James MR, Froguel P, Weissenbach J, Lathrop GM, Julier C: Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371 161-164, 1994
11. Field LL, Tobias R, Magnus T: A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nature Genet 8:189-194, 1994
12. Luo D-F, Bui MM, Muir A, Maclaren NK, Thomson G, She J-X: Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-27. Am J Hum Genet 57:911-919, 1995
13. Owerbach D, Gabbay KH: The HOXD8 (2q31) is linked to type I diabetes: interaction with chromosome 6 and 11 disease susceptibility genes. Diabetes 44:132-136, 1995
14. Copeman JB, Cucca F, Hearne CM, Cornall RJ, Reed PW, Roningen KS, Undlien DE, Nistico L, Buzzetti R, Tosi R, Pociot F, Nerup J, Cornelis F, Barnett AH, Bain SC, Todd JA: Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nature Genet 9:80-85, 1995
15. 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. Nature Genet 10:240-242, 1995
16. Singal DP, Blajohman MA: Histocompatibility (HL-A) antigens, lymphocytotoxic antibodies and tissue-specific antibodies in patients with diabetes mellitus. Diabetes 22:429-432, 1973
17. Nerup J, Platz P, Anderson OO, Christie M, Lyngsoe J, Poulsen JE, Ryder LP, Thomsen M, Staub-Nielsen K, Svejgarrd A. HL-A antigens in diabetes mellitus. Lancet ii:864-866, 1974
18. Cudworth AG, Woodrow JC: Evidence for HLA-linked genes in insulin-dependent diabetes mellitus. Br Med J 3:133-135, 1975
19. Nerup J, Cathelineau C, Seignalet J, Thomsen M: HLA and endocrine diseases, diabetes mellitus. In HLA and Disease. Dausset J, Svejgaard A, Eds Copenhagen, Munksgaard, 1976, p. 145-159
20. Barbosa J, Chern MM, Reinsmoen N, Noreen H, Ramsey R, Greenberg L: HLA-Dw antigens in unrelated juvenile, insulin-dependent diabetics. Tissue Antigens 14:426-436, 1979
21. Svejgarrd A, Platz P, Rydei LP: Insulin-dependent diabetes mellitus: joint report. In Histocompatibility Testing. Terasaki PI, Ed. Los Angeles, CA, Univ of California Los Angeles, 1980, p. 638-656
22. Owerbach D, Lernmark A, Platz P, Ryder LP, Rask L, Peterson PA, Ludvigsson J: HLA-D region β-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals. Nature 303:815-817, 1983
23. Owerbach D, Lernmark, Rask L, Peterson PA, Platz P, Svejgaard: Detection of HLA-D/DR-related DNA polymorphism in HLA-D homozygous typing cells. Proc Natl Acad Sci USA 80:3758-3761, 1983
24. Cohen-Haguenauer O, Robbins E, Massart C, Busson M, Deschamps I, Hors J, Lalouel JM, Dausset J, Cohen D: A systematic study of HLA class II-β DNA restriction fragments in insulin-dependent diabetes mellitus. Proc Natl Acad Sci USA 82:3335-3339, 1985
25. Sheehy MJ, Scharf SJ, Rowe JF, Neme de Gimenez MH, Meske LM, Erlich HA, Nepom BS: A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles. J Clin Invest 83:830-835, 1989
26. Todd JA, Bell JI, McDevitt HO: HLA DQβ gene contributes to susceptibility and resistance in insulin-dependent diabetes mellitus. Nature 329.599-604, 1987
27. Horn GT, Bugawan TL, Long CM, Manos M, Erlich HA: Sequence analysis of HLA class II genes from insulin-dependent diabetic individuals. Hum Immunol 21:249-263, 1988
28. Sanjeevi CB, Zeidler A, Shaw S, Rotter J, Nepom GT, Costin G, Raffel L, Eastman S, Kockum I, Wassmuth R, Lernmark A: Analysis of HLA-DQA1 and -DQB1 genes in Mexican Americans with insulin-dependent diabetes mellitus. Tissue Antigens 42:72-77, 1993
29. Sanjeevi CB, Lybrand TP, DeWeese C, Landin-Olsson M, Kockum I, Gahlquist G, Sundkvist G, Stenger D, Lernmark A, the Swedish Childhood Diabetes Study: Polymorphic amino acid variations in HLA-DQ are associated with systematic physical property changes and occurrence of IDDM. Diabetes 44:125-131, 1995
30. Owerbach D, Gunn S, Gabbay KH: Primary association of HLA-DQw8 with type I diabetes mellitus in DR4 patients. Diabetes 38:942-945, 1989
31. Jenkins D, Mijovic C, Fletcher J, Jacobs KH, Bradwell AR, Barnett AH: Identification of susceptibility loci for type 1 (insulin-dependent) diabetes by trans-racial gene mapping Diabetologia 33:387-395, 1990
32. Todd JA, Fukui Y, Kitagawa T, Sasazuki T: The A3 allele of the HLA-DQA1 locus is associated with susceptibility 10 type 1 diabetes in Japanese. Proc Natl Acad Sci USA 87:1094-1098, 1990
33. Khalil I, D'Auriol L, Gobet M, Morin L, Lepage V, Deschamps I, Park MS, Degos L, Galibert F, Hors J: A combination of HLA-DQB Asp 57 negative and HLA-DQA Arg 52 confers susceptibility to IDDM. J Clin Invest 85:1315-1319, 1990
34. NOD to the development of insulitis in non-obese diabetic mice. Nature 345:722-724, 1990
35. k transgenic mice. Nature 345:724-726, 1990
36. Lund T, O'Reilly L, Hutchings P, Kanagawa O, Simpson E, Gravely R, Chandler P, Ryson J, Picard JK, Edwards A, Kioussi D, Cooke A: Prevention of insulin-dependent diabetes mellitus in non-obese diabetic mice by transgenes encoding modified I-A β chain or normal I-E α chain. Nature 345:727-729, 1990
37. Nishimoto H, Kikutani H, Yamamura KI, Kishimoto T: Prevention of autoimmune insulitis by expression of I-E molecules in NOD mice. Nature 328:432-434, 1987
38. Boitard C, Bendelac A, Richard MF, Carnaud C, Bach JF: Prevention of diabetes in nonobese diabetic mice by anti-I-A monoclonal antibodies: transfer of protection by splenic T-cells. Proc Natl Acad Sci USA 85:9719-9723, 1988
39. Nepom GT: A unified hypothesis for the complex genetics of HLA associations with IDDM. Diabetes 39:1153-1157, 1990
40. Sheehy MJ: HLA and insulin-dependent diabetes: a protective perspective. Diabetes 41:123-129, 1992
41. Demaine AG, Hibberd ML, Mangles D, Millward BA: A new marker in the HLA class I region is associated with the age at onset of IDDM. Diabetologia 38:623-628, 1995
42. Fenmnessy M, Metcalfe K, Hitman GA, Niven M, Biro PA, Tuomilehto J, Tuomilehto-Wolf E, the Childhood Diabetes in Finland (DiMe) Study Group: A gene in the HLA class 1 region contributes to susceptibility to IDDM in the Finnish population. Diabetologia 37 937-944, 1994
43. Easteal S, Kohenen-Corish MRJ, Zimmet P, Serjeantson SW: HLA-DP variation as additional risk factor in IDDM. Diabetes 39:855-857, 1990
44. Deng GY, Muir A, Maclaren NK, She J-X: Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus. population and family studies. Am J Hum Genet 56:528-534, 1995
45. Bell GI, Gerhard DS, Fong NM, Sanchez-Pescador R, Rall LB: Isolation of the human insulin-like growth factor genes: insulin-like growth factor II and insulin genes are contiguous. Biochemistry 82:6450-6454, 1985
46. Bell GI, Pictet RL, Rutter WJ, Cordell B, Tischer E, Goodman HM: Sequence of the human insulin gene. Nature 284 26-32, 1980
47. Ullrich A, Dull TJ, Gray A: Genetic variation in the human insulin gene. Science 209:612-615, 1980
48. Owerbach D, Bell GI, Rutter WJ, Shows TB: The insulin gene is located on chromosome 11 in humans. Nature 286:82-84, 1980
49. Bell GI, Karam JH, Rutter WJ: Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc Natl Acad Sci USA 78:5759-5763, 1981
50. Rowtein P, Chyn R, Chirgwin J, Cordell B, Goodman HM, Permutt MA: Polymorphism in the 5′ flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science 213:1117-1120, 1981
51. Owerbach D, Nerup J: Restriction fragment length polymorphism of the insulin gene in diabetes mellitus. Diabetes 31:275-277, 1982
52. Owerbach D, Poulsen S, Billesbolle P, Nerup J: DNA insertion sequences near the insulin gene affect glucose regulation. Lancet 1:880-883, 1982
53. Bell GI, Selby MJ, Rutter WJ: The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature 295:31-35, 1982
54. Ullrich A, Dull TJ, Gray A, Philips JA III, Peter S: Variation in the sequence and modification state of the human insulin gene flanking regions. Nucleic Acids Res 10:2225-2239, 1982
55. Owerbach D, Aagaard L: Analysis of a 1963-bp polymorphic region flanking the human insulin gene. Genetics 31:475-479, 1984
56. Rotwein P, Yokoyama S, Didier DK, Chirgwin JM: Genetic analysis of the hypervariable region flanking the human insulin gene. Hum Genet 39:291-299, 1986
57. Lucassen AM, Julier C, Beressi J-P, Boitard C, Froguel P, Lathrop M, Bell JI: Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nature Genet 4:305-310, 1993
58. Owerbach DI, Gabbay KH: Localization of a type I diabetes susceptibility locus to the variable tandem repeat region flanking the insulin gene. Diabetes 42:1708-1714, 1993
59. Bennett ST, Lucassen AM, Gough SCL, Powell EE, Undlien DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfield MJ, Pociot F, Nerup J, Bouzekri N, Cambon-Thomsen A, Ronningen KS, Barnett AH, Bain SC, Todd JA: Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellile locus. Nature Genet 9:284-292, 1995
60. Undlien DE, Bennett ST, Todd JA, Akselsen HE, Ikaheimo I, Reigonen H, Knip M, Thorsby E, Ronningen KS: Insulin gene region-encoded susceptibility to IDDM maps upstream of the insulin gene. Diabetes 44.620-625, 1995
61. Kennedy GC, German MS, Rutter WJ: The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet 9.293-298, 1995
62. Lucassen AM, Screaton GR, Julier C, Elliott TJ, Lathrop M, Bell JI: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. Hum Mol Gen 4:501-506, 1995
63. Thomson G: Identifying complex disease genes: progress and paradigms. Nature Genet 8:108-110, 1994
64. Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet 11:241-247, 1995
65. Buhler J, Owerbach D, Schaffer AA, Kimmel M, Gabbay KH: Software and statistical tools for linkage analyses of polygenic diseases using type I diabetes as a model (Abstract). Am J Hum Genet 57 (Suppl.):A171, 1995
66. Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the inulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516, 1993
67. Ruddle FH: Reverse genetics and beyond. Am J Hum Genet 36.944-953, 1984
68. Orkin SH: Reverse genetics and human disease. Cell 47:845-850, 1986
69. Weber JL, May PE: Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396, 1989
70. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M: A second-generation linkage map of the human genome. Nature 359:794-801, 1992
71. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Berardi G, Lathrop M, Weissenbach J: The 1993-94 Genethon human genetic linkage map. Nature Genet 7:246-339, 1994
72. The genome directory. Nature 377 (Suppl.):1-379, 1995
73. Ellison J, Dean M, Goldman D: Efficacy of fluoresence-based PCR-SSCP for detection of point mutations. Biotechniques 15:684-691, 1993
74. Youil R, Kemper B, Cotton R: Screening for mutations by enzyme mismatch clevage with T4 endonuclease VII. Proc Natl Acad Sci USA 92:87-91, 1995
75. Mashal RD, Koontz JK, Sklar J: Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases. Nature Genet 9.177-183, 1995
76. Williams ER: Systemic lupus erythematosus and diabetes mellitus Br J Clin Prac 22:461-463, 1968
77. Grennan DM, Sanders PA, Thomson W, Dyer PA: Rheumatoid arthritis: inheritance and association with other autoimmune diseases. Dis Markers 4:157-162, 1986
78. Warins PC, Rosenbaum BJ, Micelis MF, Hass JE: Idopathic membranous glomerulonephritis occurring with diabetes mellitus. Arch Intern Med 132:735-738, 1973
79. Tardiey M, Vial MT, Francois R: Insulin-dependent diabetes associated with celiac disease in two families. Arch Fr Pediatr 34:753-756, 1977