| 1. |
Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., et al. (2001) Initial sequencing and analysis
of the human genome. Nature
409, 860–921.
|
| |
| 2. |
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., et al. (2001) The sequence of the human
genome. Science
291, 1304–1351.
|
| |
| 3. |
Masood, E. (1999) As consortium plans free SNP map of human genome. Nature
398, 545–546.
|
| |
| 4. |
Marth, G. T., Korf, I., Yandell, M. D., Yeh, R. T., Gu, Z., Zakeri, H., et al. (1999) A general approach to single-nucleotide
polymorphism discovery. Nat. Genet.
23, 452–456.
|
| |
| 5. |
Smigielski, E. M., Sirotkin, K., Ward, M., and Sherry, S. T. (2000) dbSNP: a database of single nucleotide polymorphisms.
Nucleic Acids Res.
28, 352–355.
|
| |
| 6. |
Kruglyak, L. and Nickerson, D. A. (2001) Variation is the spice of life. Nat. Genet.
27, 234–236.
|
| |
| 7. |
Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P., Sapolsky, R., et al. (1998) Large-scale identification, mapping,
and genotyping of single-nucleotide polymorphisms in the human genome. Science
280, 1077–1082.
|
| |
| 8. |
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., et al. (1999) Characterization of single-nucleotide
polymorphisms in coding regions of human genes. Nat. Genet.
22, 231–238.
|
| |
| 9. |
Halushka, M. K., Fan, J. B., Bentley, K., Hsie, L., Shen, N., Weder, A., et al. (1999) Patterns of single-nucleotide polymorphisms
in candidate genes for blood-pressure homeostasis. Nat. Genet.
22, 239–247.
|
| |
| 10. |
Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., et al. (1985) Enzymatic amplification of
beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science
230, 1350–1354.
|
| |
| 11. |
Foster, C. B., Lehrnbecher, T., Mol, F., Steinberg, S. M., Venzon, D. J., Walsh, T. J., et al. (1998) Host defense molecule
polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J. Clin. Invest.
102, 2146–2155.
|
| |
| 12. |
mGarred, P., Pressler, T., Madsen H.O., Frederiksen, B., Svejgaard, A., Hoiby, N.,etal. (1999) Association of mannose-binding
lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest.
104, 431–437.
|
| |
| 13. |
Chanock, S. J. and Foster, C. B. (1999) SNPing away at innate immunity. J. Clin. Invest.
104, 369–370.
|
| |
| 14. |
Buetow, K. H., Edmonson, M. N., and Cassidy, A. B. (1999) Reliable identification of large numbers of candidate SNPs from
public EST data. Nat. Genet.
21, 323–325.
|
| |
| 15. |
Irizarry, K., Kustanovich, V., Li, C., Brown, N., Nelson, S., Wong, W., et al. (2000) Genome-wide analysis of single-nucleotide
polymorphisms in human expressed sequences. Nat. Genet.
26, 233–236.
|
| |
| 16. |
Strausberg, R. L., Buetow, K. H., Emmert-Buck, M. R., and Klausner, R. D. (2000) The cancer genome anatomy project: building
an annotated gene index. Trends Genet.
16, 103–106.
<Occurrence Type="DOI"><Handle>10.1016/S0168-9525(99)01937-X</Handle></Occurrence>
|
| |
| 17. |
Hill, A. V. (1999) Genetics and genomics of infectious disease susceptibility. Br. Med.Bull.
55, 401–413.
|
| |
| 18. |
Collins, F. S. and McKusick, V. A. (2001) Implications of the Human Genome Project for medical science. JAMA
285, 540–544.
|
| |
| 19. |
Lehrnbecher T., Foster, C.B., Zhu, S., Leitman, S.F., Goldin, L.R., Huppi, K., etal. (1999) Variant genotypes of the low affinity
Fc-gamma receptors in two control populations and a review of low affinity Fc-gamma receptor polymorphisms in control and
disease populations. Blood
94, 4220–4232.
|
| |
| 20. |
Kruglyak, L. (1997) The use of a genetic map of biallelic markers in linkage studies. Nat. Genet.
17, 21–24.
|
| |
| 21. |
Lander, E. S. (1996) The new genomics: global views of biology. Science
274, 536–539.
|
| |
| 22. |
Risch, N. and Merikangas, K. (1996) The future of genetic studies of complex human diseases. Science
273, 1516–1517.
|
| |
| 23. |
Mira, J. P., Cariou, A., Grall, F., Delclaux, C., Losser, M. R., Heshmati, F., et al. (1999) Association of TNF2, a TNF-alpha
promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study. JAMA
282, 561–568.
|
| |
| 24. |
Foster, C. B., Lehrnbecher, T., Samuels, S., Stein, S., Mol, F., Metcalf, J. A., et al. (2000) An IL6 promoter polymorphism
is associated with a lifetime risk of development of kaposi sarcoma in men infected with human immunodeficiency virus. Blood
96, 2562–2567.
|
| |
| 25. |
Warzocha, K., Ribeiro, P., Bienvenu, J., Roy, P., Charlot, C., Rigal, D., et al. (1998) Genetic polymorphisms in the tumor
necrosis factor locus influence non-Hodgkin’s lymphoma outcome. Blood
91, 3574–3581.
|
| |
| 26. |
Morse, H. R., Olomolaiye, O. O., Wood, N. A., Keen, L. J., and Bidwell, J. L. (1999) Induced heteroduplex genotyping of TNF-alpha,
IL-1beta, IL-6 and IL-10 polymorphisms associated with transcriptional regulation. Cytokine
11, 789–795.
|
| |
| 27. |
Perrey, C., Pravica, V., Sinnott, P. J., and Hutchinson, I. V. (1998) Genotyping for polymorphisms in interferon-gamma, interleukin-10,
transforming growth factor-beta 1 and tumour necrosis factor-alpha genes: a technical report. Transplant. Immunol.
6, 193–197.
<Occurrence Type="DOI"><Handle>10.1016/S0966-3274(98)80045-2</Handle></Occurrence>
|
| |
| 28. |
Epplen, C., Frank, G., Gomolka, M., Albert, E., Nurnberg, P., and Epplen, J. T. (1994) Dinucleotide repeat polymorphism in
the human IL1A gene. Hum. Mol. Genet.
3, 1710.
|
| |
| 29. |
Hurme, M. and Santtila, S. (1998) IL-1 receptor antagonist (IL-1Ra) plasma levels are co-ordinately regulated by both IL-1Ra
and IL-1beta genes. Eur. J. Immunol.
28, 2598–2602.
<Occurrence Type="DOI"><Handle>10.1002/(SICI)1521-4141(199808)28:08<2598::AID-IMMU2598>3.0.CO;2-K</Handle></Occurrence>
|
| |
| 30. |
Parkes, M., Satsangi, J., and Jewell, D. (1998) Contribution of the IL-2 and IL-10 genes to inflammatory bowel disease (IBD)
susceptibility. Clin. Exp. Immunol.
113, 28–32.
|
| |
| 31. |
Borish, L., Mascali, J. J., Klinnert, M., Leppert, M., and Rosenwasser, L. J. (1994) SSC polymorphisms in interleukin genes.
Hum. Mol. Genet.
3, 1710.
|
| |
| 32. |
Hook, S., Cheng, P., Holloway, J., Riley, G., Sawyer, G., Le Gros, G., et al. (1999) Analysis of two IL-4 promoter polymorphisms
in a cohort of atopic and asthmatic subjects. Exp. Clin. Immunogenet.
16, 33–35.
|
| |
| 33. |
Graves, P. E., Kabesch, M., Halonen, M., Holberg, C. J., Baldini, M., Fritzsch, C., et al. (2000) A cluster of seven tightly
linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children. J. Allergy Clin. Immunol.
105, 506–513.
|
| |
| 34. |
Terry, C. F., Loukaci, V., and Green, F. R. (2000) Cooperative influence of genetic polymorphisms on interleukin 6 transcriptional
regulation. J. Biol. Chem.
275, 18, 138–18, 144.
|
| |
| 35. |
Schmidt, S., Papassotiropoulos, A., Bagli, M., Harzheim, M., Heun, R., and Klockgether, T. (2000) No association of serum
levels of interleukin-6 and its soluble receptor components with a genetic variation in the 3? flanking region of the interleukin-6 gene in patients with multiple sclerosis. Neurosci. Lett.
294, 139–142.
<Occurrence Type="DOI"><Handle>10.1016/S0304-3940(00)01560-3</Handle></Occurrence>
|
| |
| 36. |
Renzoni, E., Lympany, P., Sestini, P., Pantelidis, P., Wells, A., Black, C., et al. (2000) Distribution of novel polymorphisms
of the interleukin-8 and CXC receptor 1 and 2 genes in systemic sclerosis and cryptogenic fibrosing alveolitis. Arthritis Rheum.
43, 1633–1640.
<Occurrence Type="DOI"><Handle>10.1002/1529-0131(200007)43:7<1633::AID-ANR29>3.0.CO;2-9</Handle></Occurrence>
|
| |
| 37. |
Gibson, A. W., Edberg, J. C., Wu, J., Westendorp, R. G., Huizinga, T. W., and Kimberly, R. P. (2001) Novel single nucleotide
polymorphisms in the distal il-10 promoter affect il-10 production and enhance the risk of systemic lupus erythematosus. J. Immunol.
166, 3915–3922.
|
| |
| 38. |
Maurer, M., Kruse, N., Giess, R., Toyka, K. V., and Rieckmann, P. (2000) Genetic variation at position-1082 of the interleukin
10 (IL10) promotor and the outcome of multiple sclerosis. J. Neuroimmunol.
104, 98–100.
<Occurrence Type="DOI"><Handle>10.1016/S0165-5728(99)00256-8</Handle></Occurrence>
|
| |
| 39. |
Bellingham, J., Gregory-Evans, K., and Gregory-Evans, C. Y. (1998) A polymor-phic dinucleotide repeat in the 5? flanking region of the human interleukin 11 (IL11) gene. Immunogenetics
47, 499–500.
|
| |
| 40. |
Shibata, S., Asano, Y., Yokoyama, T., Shimoda, K., Nakashima, H., Okamura, S., et al. (1998) Analysis of the granulocyte colony-stimulating
factor receptor gene 93 structure using PCR-SSCP in myeloid leukemia and myelodysplastic syndrome. Eur. J. Haematol.
60, 197–201.
|
| |
| 41. |
Wyman, A. R. and White, R. (1980) A highly polymorphic locus in human DNA. Proc. Natl. Acad. Sci. USA
77, 6754–6758.
|
| |
| 42. |
Olomolaiye, O., Wood, N. A., and Bidwell, J. L. (1998) A novel NlaIII polymor-phism in the human IL-6 promoter. Eur. J. Immunogenet.
25, 267.
|
| |
| 43. |
Tarlow, J. K., Blakemore, A. I., Lennard, A., Solari, R., Hughes, H. N., Steinkasserer, A., et al. (1993) Polymorphism in
human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum. Genet.
91, 403–404.
|
| |
| 44. |
Danis, V. A., Millington, M., Hyland, V. J., and Grennan, D. (1995) Cytokine production by normal human monocytes: inter-subject
variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism. Clin. Exp. Immunol.
99, 303–310.
|
| |
| 45. |
Langabeer, S. E. and Linch, D. C. (1998) IL-1 receptor antagonist gene polymor-phism in patients with secondary acute myeloid
leukaemia. Cytokines Cell. Mol. Ther.
4, 7–9.
|
| |