Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31–q33

Nature Genetics

Volumn 9, Issue 1, 1995, Pages 80-85

  Copeman, J B ^a   Cucca, F ^a   Hearne, C M ^a   Cornall, R J ^a   Reed, P W ^a   Ronningen K S ^b   Undlien, D E ^b   Nistico L ^c   Buzzetti, R ^c   Tosi, R ^d   Pociot, F ^e   Nerup, J ^e   Cornelis F ^f   Barnett, A H ^g   Bain, S C ^g   Todd, J A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d CNR   (Italy)

^e STENO DIABETES CENTER   (Denmark)

^f SAINT LOUIS HOSPITAL   (France)

^g UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 2Q; CHROMOSOME SATELLITE ASSOCIATION; FAMILY HISTORY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE MAPPING; GENETIC MARKER; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; ANIMAL; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE STUDY; DIABETES MELLITUS, INSULIN-DEPENDENT; DNA PRIMERS; DNA, SATELLITE; FEMALE; GENETIC MARKERS; HUMAN; LINKAGE DISEQUILIBRIUM; MALE; MICE; MOLECULAR SEQUENCE DATA; SUPPORT, NON-U.S. GOV'T;

EID: 0028843482     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0195-80     Document Type: Article

References (57)

1. Singal, D.P. & Blajchman, A., Histocompatibility antigens, lymphocytotoxic antibodies and tissue antibodies in patients with diabetes mellitus. Diabetes 22, 429-432 (1973).
2. Nerup, J. et al. HL-A antigens and diabetes mellitus. Lancet II 864-866 (1974).
3. Cudworth, A. & Woodrow, J. HL-A system and diabetes mellitus. Diabetes24, 345-349 (1974).
4. Morton, N.E. et al. Heterozygous expression of insulin-dependent diabetes mellitus (IDDM) determinants in the HLA system. Am. J. hum. Genet. 35, 201-213 (1983).
5. Todd, J.A. The emperor's new genes: 1993 RD Lawrence lecture. Diabetic Med. 11, 6-16 (1994).
6. Bell, G.I., Horita, S. & Karam, J.H. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33, 176-183 (1984).
7. Thomson, G., Robinson, W.P., Kuhner, M.K., Joe, S. & Klitz, W. HLA and insulin gene associations with IDDM. Genet. Epidemiol. 6, 155-160 (1989).
8. Spielman, R.S., McGinnis, R.E. & Ewens, W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus. Am. J. hum. Genet. 52, 506-516 (1993).
9. Julier, C. et al. Insulin-IGF2 region on chromosome 11p encodes a gene implicated In HLA-DR4-dependent diabetes susceptibility. Nature 354, 155-159 (1991).
10. Bain, S.C. et al. Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals. Nature Genet.2, 212-215 (1992).
11. Davles, J.L. et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371, 130-136 (1994).
12. Hashimoto, L. et al. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371, 161-164 (1994).
13. Field, L.L., Tobias, R. & Magnus, T. A locus on chromosome 15q26 (IDDM3) produces susceptibility to Insulin-dependent diabetes mellitus. Nature Genet. 8, 189-194 (1994).
14. Bowcock, A.M. et al. Refining the position of Wilson disease by linkage disequillbrium with polymorphic microsatellites. Am. J. hum. Genet. 54, 79-87 (1994).
15. Hastbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophlc dysplasia in Finland. Nature Genet. 2, 204-211 (1992).
16. Lerner, T.J. et al. Linkage disequilibrium between the juvenile neuronal ceroid llpofuscinosis gene and marker loci on chromosome 16p12.1. Am. J. hum. Genet. 54, 88-94 (1994).
17. Morral, N. et al. The origin of the major cystic fibrosis mutation (DF508) in European populations. Nature Genet. 7, 169-175 (1994).
18. Puffenberger, E.G. et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum. molec. Genet. 3, 1217-1225 (1994).
19. Snarey, A. et al. Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am. J. hum. Genet. 55, 365-371 (1994).
20. Reed, P.W. et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nature Genet. 7, 390-395 (1994).
21. Pritchard, L.E. et al. Analysis of the CD3 gene region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping. Hum. molec. Genet, (in the press).
22. Cornall, R.J. et al. Type 1 diabetes in mice is linked to the interleukin-1 receptor and Lsh/Ity/Bcg genes on chromosome 1. Nature 353, 262-265 (1991).
23. Schurr, E., Skamene, E., Morgan, K., Chu, M.-L. & Gros, P. Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics 8, 477-486 (1990).
24. Tiller, G.E., Polumbo, P.A. & Sumnar, M.L. Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism. Genomics 20, 275-277 (1994).
25. Gyapay, G. et al. The 1993-94 Généthon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
26. Mølvig, J. A model of the pathogenesls of insulin-dependent diabetes mellitus. Dan. med. Bull. 39, 509-541 (1992).
27. Pociot, P., Johannesen, J. & Nerup, J. Non-HLA markers may differentiate between familial and sporadic IDDM cases. J. Autoimm. (in the press).
28. Bergholdt, R. et al. Possible association of an interleukin-1 receptor type 1 gene polymorphism with IDDM. Eur. J. Endocrinol. 130 (suppl), 17 (1994).
29. Vidal, S.M., Malo, D., Vogan, K., Skamene, E. & Gros, P. Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. Cell 73, 469-485 (1993).
30. Lernmark, A. et al. Family cell lines available for research. Am. J. hum. Genet. 47, 1028-1030 (1990).
31. Todd, S. & Naylor, S.L. Dinucleotide repeat polymorphism in the human interleukin 1, alpha gene (IL1 A). Nucl. Acids Res. 19, 3756 (1991).
32. Risch, N. Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs. Am. J. hum. Genet. 46, 242-253 (1990).
33. Holmans, P. Asymptotic properties of affected-sib-pair linkage analysis. Am. J. hum. Genet. 52, 362-374 (1993).
34. Schaid, D.J. & Sommer, S.S. Comparison of statistics for candidate-gene association studies using cases and parents. Am. J. hum. Genet. 55, 402-409 (1994).
35. Pociot, F., Mølvig, J., Wogensen, L., Worsaae, H. & Nerup, J. A Taql polymorphism in the human interleukln-1 β (IL-1 β) gene correlates with IL-1 β secretion in vitro. Eur. J. clin. Invest. 22, 396-402 (1992).
36. Tarlow, J.K. et al. Polymorphism in the human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum. Genet. 91, 403-404 (1993).
37. Mandrup-Poulsen, T. et al. Monokine antagonism is reduced in patients with IDDM. Diabetes 43, 1242-1247 (1994).
38. Nicklin, M.J.H., Weith, A. & Duff, G.W. A physical map of the region encompassing the human interleukin-1 α, interleukin-1 β, and interleukin-1 receptor antagonist genes. Genomics 19, 382-384 (1994).
39. McDowell, T.L., Symons, J.A., Ploski, R., Førre, Ø. & Duff, G.W. A polymorphism in the 5' region of the interleukin-1 alpha gene is associated with juvenile chronic arthritis (JCA). Br. J. Rheumatol. 32(Suppl1), 162 (1993).
40. di Giovine, F.S., Takhsh, E., Blakemore, A.I.F. & Duff, G.W. Single base polymorphism at -511 in the human Interleukin-1 β gene (IL1 β). Hum. molec. Genet. 1, 450 (1992).
41. White, J.K. et al. Genetic and physical mapping of 2q35 in the region of NRAMP and IL8R genes: identification of a polymorphic repeat in exon 2 of NRAMP. Genomics (in the press).
42. Olson, J.M. & Wijsman, E.M. Design and sample-size considerations in the detection of linkage disequilibrium with a disease locus. Am. J. hum. Genet. 55, 574-580 (1994).
43. Watkins, W.S. et al. Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand Factor region. Am. J. hum. Genet. 55, 348-355 (1994).
44. Jorde, L.B., Watkins, W.S., Viskochil, D., O'Connell, P. & Ward, K. Linkage, disequilibrium in the neurofibromatosis 1 (NF1) region; implications for gene mapping. Am. J. hum. Genet. 53, 1038-1050 (1993).
45. Jorde, L.B. et al. Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am. J. hum. Genet. 54, 884-898 (1994).
46. Todd, J.A., Bell, J.I. & McDevitt, H.O. HLA-DQ β gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329, 599-604 (1987).
47. Lucassen, A.M. et al. 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).
48. Risch, N. Assessing the role of HLA-linked and unlinked determinants of disease. Am. J. hum. Genet. 40, 1-14 (1987).
49. Suarez, B.K., Hampe, C.L. & Eerdewegh, P.V. in Genetic approaches to mental disorders (eds Gershon, E.S. & Cloninger, C.R.) 23-46 (American Psychiatric Press, Washington, DC, 1994).
50. Bain, S.C., Todd, J.A. & Bamett, A.H. The British Diabetic Association — Warren Repository. Autoimmunity 7, 83-85 (1990).
51. Pociot, F. et al. A nationwide population-based study of the familial aggregation of Type 1 (insulin-dependent) diabetes mellitus in Denmark. Dlabetologia 36, 870-875 (1993).
52. Larin, Z., Monaco, A.P. & Lehrach, H. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. natn. Acad. Sci. U.S.A 88, 4123-4127 (1991).
53. Albertsen, H.M. et al. Construction and characterisation of a yeast artifcial chromosome library containing seven haploid human genome equivalents. Proc. natn. Acad. Sci. U.S.A. 87, 4256-4260 (1990).
54. Church, G.M. & Gilbert, W. Genomic sequencing. Proc. natn. Acad. Sci. U.S.A 81, 1991-1995 (1984).
55. Feinberg, A.P. & Vogelsteln, B. A technique for radiolabelling DNA restriction endonuclease fragments to a high specific activity. Anal. Biochem. 137, 6-13 (1983).
56. Matise, T.C., Perlin, M. & Chakravarti, A. Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nature Genet. 6, 384-390 (1994).
57. Buetow, K.H. et al. Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet. 6, 391-393 (1994).