Analysis of an IFN-γ gene (IFNG) polymorphism in multiple sclerosis in Europe: Effect of population structure on association with disease

Journal of Interferon and Cytokine Research

Volumn 19, Issue 9, 1999, Pages 1037-1046

  Goris, A N ^a   Epplen, Cornelia ^b   Fiten, Pierre ^a   Andersson, Magnus ^c   Murru, Raffaele ^d   Sciacca, Francesca L ^e   Ronsse, Isabelle ^a   Jäckel, Silke ^b   Epplen, Jörg T ^b   Marrosu, Maria G ^d   Olsson, Tomas ^c   Grimaldi, Luigi M E ^e   Opdenakker, Ghislain ^a   Billiau, Alfons ^a   Vandenbroeck, Koen ^a  

^a REGA INSTITUTE FOR MEDICAL RESEARCH   (Belgium)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF CAGLIARI   (Italy)

^e SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; MARKER;

ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DNA POLYMORPHISM; EUROPE; FEMALE; GENETIC ANALYSIS; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; POPULATION STRUCTURE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEX DIFFERENCE;

ALLELES; CASE-CONTROL STUDIES; FEMALE; GERMANY; HLA-DR ANTIGENS; HUMANS; INTERFERON TYPE II; ITALY; MALE; MICROSATELLITE REPEATS; MULTIPLE SCLEROSIS; POLYMORPHISM, GENETIC; RISK FACTORS; SWEDEN;

EID: 0032876203     PISSN: 10799907     EISSN: None     Source Type: Journal    
DOI: 10.1089/107999099313262     Document Type: Article

References (56)

1. SAWCER, S., GOODFELLOW, P.N., and COMPSTON, A. (1997). The genetic analysis of multiple sclerosis. Trends Gene. 13, 234-239.
2. MARROSU, M.G., MURRU, M.R., COSTA, G., CUCCA, F., SOTGIU, S., ROSATI, G., and MUNTONI, F. (1997). Multiple sclerosis in Sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles. Am. J. Hum. Genet. 61, 454-457.
3. MARROSU, M.G., MURRU, M.R., COSTA, G., MURRU, R., MUNTONI, F., and CUCCA, F. (1998). DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Hum. Mol. Genet. 8, 1235-1237.
4. RISCH, N. (1987). Assessing the role of HLA-linked and unlinked determinants of disease. Am. J. Hum. Genet. 40, 1-14.
5. DYMENT, D.A., SADNOVICH, A.D., and EBERS, G.C. (1997). Genetics of multiple sclerosis. Hum. Mol. Genet. 6, 1693-1698.
6. PANITCH, H.S., HIRSCH, R.L., HALEY, A.S., and JOHNSON, K.P. (1987). Exacerbations of multiple sclerosis in patients treated with gamma interferon. Lancet 1, 893-895.
7. DETTKE, M., SCHEIDT, P., PRANGE, H., and KIRCHNER, H. (1997). Correlation between interferon production and clinical disease activity in patients with multiple sclerosis. J. Clin. Immunol. 17, 293-300.
8. DRESCHER, K.M., PEASE, L.R., and RODRIGUEZ, M. (1997). Antiviral immune responses modulate the nature of central nervous system disease in a murine model of multiple sclerosis. Immunol. Rev. 159, 177-193.
9. MONTEYNE, M., BUREAU, J.F., and BRAHIC, M. (1997). The infection of mouse by Theiler's virus: from genetics to immunology. Immunol. Rev. 159, 163-176.
10. TRENT, J.M., OLSON, S., and LAWN, R.M. (1982). Chromosomal localization of human leukocyte, fibroblast and immune interferon genes by means of in situ hybridization. Proc. Natl. Acad. Sci. USA 79, 7809-7813.
11. ZIMONJIC, D.B., REZANKA, L.J., EVANS, C.H., POLYMEROPOULOS, M.H., TRENT, J.M., and POPESCU, N.C. (1995). Mapping of IFNG to 12q14 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 71, 247-248.
12. BUREAU, J.F., BIHL, F., BRAHIC, M., and LE PASLIER, D. (1995). The gene coding for interferon-γ is linked to the D12S335 and D12S313 microsatellites and to the MDM2 gene. Genomics 28, 109-112.
13. RUIZ-LINARES, A. (1993). Dinucleotide repeat polymorphism in the interferon-gamma (IFNG) gene. Hum. Mol. Genet. 2, 1508.
14. HARDY, K.J., PETERLIN, B.M., ATCHINSON, R.E., and STOBO, J.D. (1985). Regulation of expression of the human interferon gamma gene. Proc. Natl. Acad. Sci. USA 82, 8173-8177.
15. MELVIN, A.J., McGURN, M.E., BORT, S.J., GIBSON, C., and LEWIS, D.B. (1995). Hypomethylation of the interferon-γ gene correlates with its expression by primary T-lineage cells. Eur. J. Immunol. 25, 426-430.
16. XU, X., SUN, Y., and HOEY, T. (1996). Cooperative DNA binding and sequence-selective recognition conferred by the Stat aminoterminal domain. Science 273, 794-797.
17. SICA, A., DORMAN, L., VIGGIANO, V., CIPPITELLI, M., GHOSH, P., RICE, N., and YOUNG, H.A. (1997). Interaction of NF-κB and NFAT with the interferon-γ promotor. J. Biol. Chem. 272, 30412-30420.
18. YOUNG, H.A. (1996). Regulation of interferon-γ gene expression. J. Interferon Cytokine Res. 16, 563-568.
19. PRAVICA, V.P., BORREIRO, L.F., and HUTCHINSON, I.V. (1997). Genetic regulation of interferon-γ production. Biochem. Soc. Trans. 176S, 25.
20. WEISSERT, R., WALLSTRÖM, E., STORCH, M.K., STEFFERL, A., LORENTZEN, J., LASSMAN, H., LININGTON, C., and OLSSON, T. (1998). MHC haplotype-dependent regulation of MOG-induced EAE in rats. J. Clin. Invest. 102, 1265-1273.
21. VANDENBROECK, K., OPDENAKKER, G., GORIS, A., MURRU, R., BILLIAU, A., and MARROSU, M.G. (1998). Interferon-γ gene polymorphism-associated risk for multiple sclerosis in Sardinia. Ann. Neurol. 44, 841-842.
22. ROSATI, G., AIELLO, I., PIRASTRU, M.I., MANNU, L., SANNA, G., SAU, G.F., and SOTGIU, S. (1996). Epidemiology of multiple sclerosis in northwestern Sardinia: further evidence of higher frequency in Sardinians compared to other Italians. Neuroepidemiology 15, 10-19.
23. MUNTONI, S., and SONGINI, M. (1992). High incidence rate of IDDM in Sardinia. Sardinian Collaborative Group for Epidemiology of IDDM. Diabetes Care 15, 1317-1322.
24. CAVALLI-SFORZA, L.L., and PIAZZA, A. (1993). Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur. J. Hum. Genet. 1, 3-18.
25. POCIOT, F., VEIJOLA, R., JOHANNESEN, J., HANSEN, P.M., LORENZEN, T., KARLSEN, A.E., REIJONEN, H., KNIP, M., NERUP, J., and THE DANISH STUDY GROUP OF DIABETES IN CHILDHOOD. (1997). Analysis of an interferon-γ (IFNG) polymorphism in Danish and Finnish insulin-dependent diabetes mellitus (IDDM) patients and control subjects. J. Interferon Cytokine Res. 17, 87-93.
26. WANSEN, K., PASTINEN, T., KUOKKANEN, S., WIKSTRÖM, J., PALO, J., PETONEN, L., and TIENARI, P. (1997). Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR β, IGH, IFN-γ and IL-1ra/IL-1β loci. J. Neuroimmunol. 79, 29-36.
27. SPIELMAN, R.S., McGINNIS, R.E., and EWENS, W.J. (1993). Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52, 506-516.
28. WOOLF, B. (1955). On estimating the relation between blood group and disease. Am. J. Hum. Genet. 19, 251-253.
29. FALK, C.T., and RUBINSTEIN, P. (1987). Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann. Hum. Genet. 51, 227-233.
30. ELSTON, R.C. (1995). Linkage and association to genetic markers. Exp. Clin. Immunogenet. 12, 129-140.
31. SCHAID, D.J., and SOMMER, S.S. (1994). Comparison of statistics for candidate-gene association studies using cases and parents. Am. J. Hum. Genet. 55, 402-409.
32. AICKIN, M., and GENSLER, H. (1996). Adjusting for multiple testing when reporting research results: the Bonferroni vs Holm methods. Am. J. Public Health 6, 726-728.
33. HE, B., XU, C., YANG, B., LANDTBLOM, A.M., FREDRIKSON, S., and HILLERT, J. (1998). Linkage and association analysis of genes encoding cytokines and myelin proteins in multiple sclerosis. J. Neuroimmunol. 86, 13-19.
34. THOMSON, G. (1995). Mapping disease genes: family-based association studies. Am. J. Hum. Genet. 57, 487-498.
35. SCHAID, D.J., and SOMMER, S.S. (1993). Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am. J. Hum. Genet. 53, 1114-1126.
36. EPPLEN, C., JÄCKEL, S., SANTOS, E.J.M., D'SOUZA, M., POEHLAU, D., DOTZAUER, B., SINDERN, E., HAUPTS, M., RÜDE, K.P., WEBER, F., STÖVER, J., POSER, S., GEHLER, W., MALIN, J., PRZUNTEK, H., and EPPLEN, J.T. (1997). Genetic predisposition to multiple sclerosis as revealed by immunoprinting. Ann. Neurol. 41, 341-352.
37. JOHN, S., MYERSCOUGH, A., MARLOW, A., HAJEER, A., SILMAN, A., OLLIER, W., and WORTHINGTON, J. (1998). Linkage of cytokine genes to rheumatoid arthritis. Evidence of genetic heterogeneity. Ann. Rheum. Dis. 57, 361-365.
38. OWERBACH, D., and GABBAY, K.H. (1995). The HOXD8 locus (2q31) is linked to type I diabetes. Interaction with chromosome 6 and 11 disease susceptibility genes. Diabetes 44, 132-135.
39. POCIOT, F., MOLVIG, J., WOGENSEN, L., WORSAAE, H., and NERUP, J. (1992). A TaqI polymorphism in the human interleukin-1β gene (IL-1β) correlates with IL-1β secretion in vitro. Eur. J. Clin. Invest. 22, 396-402.
40. METCALFE, K.A., HITMAN, G.A., POCIOT, F., BERGHOLDT, R., TUOMILEHTO-WOLF, E., TUOMILEHTO, J., VISWANATHAN, M., RAMACHANDRAN, A., NERUP, J., and THE DIME STUDY GROUP. (1996). An association between type 1 diabetes and the interleukin-1 receptor type 1 gene. Hum. Immunol. 51, 41-48.
41. METCALFE, K.A., HITMAN, G.A., FENNESSY, M.J., McCARTHY, M.I., TUOMILEHTO, J., TUOMILEHTO-WOLF, E., and THE DIME STUDY GROUP. (1995). In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk. Diabetologia 38, 1223-1229.
42. WHITACRE, C.C., REINGOLD, S.C., O'LOONEY, P.A., and THE TASK FORCE ON GENDER, MULTIPLE SCLEROSIS AND AUTOIMMUNITY. (1999). A gender map in autoimmunity. Science 283, 1277-1278.
43. HAINES, J.L., TER-MINASSIAN, M., BAZYK, A., GUSELLA, J.F., KIM, D.J., TERWEDOW, H., PERICAK-VANCE, M., RIMMLER, J.B., HAYNES, C.S., ROSES, A.D., LEE, A., SHANER, B., MENOLD, M., SEBOU, E., FITOUSSI, R.P., GARTIOUX, C., REYES, D., RIBIERRE, F., GYAPAY, G., WEISSENBACH, J., HAUSER, S.L., GOODKIN, D.E., LINCOLN, R., USUKU, K., GARCIA-MERINO, A., GATTO, N., YOUNG, S., and OKSENBERG, J.R. (1996). A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex. Nat. Genet. 13, 469-476.
44. BECKER, K.G., SIMON, R.M., BAILEY-WILSON, J., FREIDLIN, B., BIDDINSON, W., McFARLAND, H.F., and TRENT, J.M. (1998). Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc. Natl. Acad. Sci. USA 95, 9979-9984.
45. SATSANGI, J., PARKES, M., LOUIS, E., HASHIMOTO, L., KATO, N., WELSH, K., TERWILLIGER, J.D., LATHROP, G.M., BELL, J.I., and JEWELL, O.P. (1996). Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat. Genet. 14, 199-202.
46. LANDER, E., and KRUGLYAK, L. (1995). Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247.
47. DUERR, R.H., BARMADA, M.M., ZHANG, L., DAVIS, S., PRESTON, R.A., CHENSNY, L.J., BROWN, J.L., EHRLICH, G.D., WEEKS, D.E., and ASTON, C.E. (1998). Linkage and association between inflammatory bowel disease and a locus on chromosome 12. Am. J. Hum. Genet. 63, 95-100.
48. BUREAU, J.F., MONTAGUTELLI, X., BIHL, F., LEFEBVRE, S., GUÉNET, J.L., and BRAHIC, M. (1993). Mapping loci influencing the persistence of Theiler's virus in the murine central nervous system. Nat. Genet. 5, 87-91.
49. BRAHIC, M., and BUREAU, J.F. (1998). Genetics of susceptibility to Theiler's virus infection. BioEssays 20, 627-633.
50. CLATCH, R.J., MELVOLD, R.W., MILLER, S.D., and LIPTON, H.L. (1985). Theiler's murine encephalomyelitis virus (TMEV) induced demyelinating disease in mice is influenced by the H-2D region: correlation with TMEV specific delayed-type hypersensitivity. J. Immunol. 135, 1408-1413.
51. RODRIGUEZ, M., LEIBOWITZ, J.L., and DAVID, C.S. (1986). Susceptibility to Theiler's virus-induced demyelination. Mapping of the gene within the H-2D region. J. Exp. Med. 163, 620-631.
52. PATICK, A.K., PEASE, L.R., DAVID, C.S., and RODRIGUEZ, M. (1990). Major histocompatibility complex-conferred resistance to Theiler's virus-induced demyelinating disease is inherited as a dominant trait in B10 congenic mice. J. Virol. 64, 5570-5576.
53. AWATA, T., MATSUMOTO, C., URAKAMI, T., HAGURA, R., ANEMIYA, S., and KANAZAWA, Y. (1994). Association of polymorphism in the interferon-γ gene with IDDM. Diabetologia 37, 1159-1162.
54. KUOKKANEN, S., GSCWEND., M., RIOUX, J.D., DALY, M.J., TERWILLIGER, J.D., TIENARI, P.J., WIKSTRÖM, J., PALO, J., STEIN, L.D., HUDSON, T.J., LANDER, E.S., and PELTONEN, L. (1997). Genomewide scan of multiple sclerosis in Finnish multiplex families. Am. J. Hum. Genet. 61, 1379-1387.
55. SAWCER, S., JONES, H.B., FEAKES, R., GRAY, J., SMALDON, N., CHATAWAY. J., ROBERTSON, N., CLAYTON, D., GOODFELLOW, P.N., and COMPSTON, A. (1996). A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat. Genet. 13, 464-471.
56. EBERS, G.C., KUKAY, K., BULMAN, D.E., SADOVNICK, A.D., RICE, G., ANDERSON, C., ARMSTRONG, H., COUSIN, K., BELL, R.B., HADER, W., PATY, D.W., HASHIMOTO, S., OGER, J., DUQUETTE, P., WARREN, S., GRAY, T., O'CONNOR, P., NATH, A., AUTY, A., METZ, L., FRANCIS, G., PAULSETH, I.E., MURRAY, T.J., PRYSE-PHILLIPS, W., NELSON, R., FREEDMAN, M., BRUNET, D., BOUCHARD, J.P., HINDS, D., and RISCH, N. (1996). A full genome search in multiple sclerosis. Nat. Genet. 13, 472-476.