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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Disease Susceptibility

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Disease relevance of Disease Susceptibility


Psychiatry related information on Disease Susceptibility


High impact information on Disease Susceptibility

  • Previous studies have suggested that desmopressin may reduce the bleeding diathesis that often complicates open-heart surgery [11].
  • Therefore, the patients with allergic asthma had significantly enhanced alpha-adrenergic responses when compared both to normal subjects and patients with allergic rhinitis; the possibility that increased alpha-adrenergic activity contributes to the asthmatic diathesis warrants further exploration [12].
  • In humans, disease susceptibility was mapped to a non-coding 6.1 kb 3' region of CTLA4, the common allelic variation of which was correlated with lower messenger RNA levels of the soluble alternative splice form of CTLA4 [13].
  • Here we show that although disruption of the thrombin receptor (tr) gene in mice causes about half of the tr-/- embryos to die at embryonic day 9-10, half survive to become grossly normal adult mice with no bleeding diathesis [14].
  • As INS is the major candidate gene from this region, diabetic and control sequence were compared to identify all INS polymorphisms that could contribute to disease susceptibility [15].

Chemical compound and disease context of Disease Susceptibility


Biological context of Disease Susceptibility


Anatomical context of Disease Susceptibility


Associations of Disease Susceptibility with chemical compounds

  • The infusion of Factor Xa at a dose of 6.6 X 10(-12) mol/kg with phosphatidylcholine/phosphatidylserine (PCPS) lipid vesicles at a dose of 4.0 X 10(-8) mol/kg was associated with significant falls in the levels of fibrinogen and Factors V and VIII, and a bleeding diathesis developed [31].
  • This model strongly suggests that the disease susceptibility correlates quantitatively with the expression at the cell surface of a heterodimer, composed of a DQ alpha-chain bearing an Arg52 and a DQ beta chain lacking an Asp57 [32].
  • However, further analysis indicated that a lysine residue at position 71 of the DR beta polypeptide may be the most important determinant of disease susceptibility (P = 0.0000003; RR = 8.6, increasing to RR = 16.38 with four lysine residues) [33].
  • Therefore, the dth9 mutation defines a regulator of disease susceptibility that operates upstream or independently of salicylic acid [34].
  • Previously, ABA has been implicated in enhancing disease susceptibility in various plant species, but currently very little is known about the molecular mechanisms underlying this phenomenon [35].

Gene context of Disease Susceptibility


Analytical, diagnostic and therapeutic context of Disease Susceptibility


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  3. CD4+CD25+ T cells protect against experimentally induced asthma and alter pulmonary dendritic cell phenotype and function. Lewkowich, I.P., Herman, N.S., Schleifer, K.W., Dance, M.P., Chen, B.L., Dienger, K.M., Sproles, A.A., Shah, J.S., Köhl, J., Belkaid, Y., Wills-Karp, M. J. Exp. Med. (2005) [Pubmed]
  4. RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice. Gruber, P.J., Kubalak, S.W., Pexieder, T., Sucov, H.M., Evans, R.M., Chien, K.R. J. Clin. Invest. (1996) [Pubmed]
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  6. Dexamethasone nonsuppression and short rapid eye movement latency in schizophrenia: markers of an affective diathesis? Goldman, M., Tandon, R., Taylor, S.F., DeQuardo, J.R., Shipley, J.E., Patel, B., Reddig, S., Jibson, M. Biol. Psychiatry (1996) [Pubmed]
  7. Histocompatibility antigens and antibodies to viral and other antigens in Alzheimer pre-senile dementia. Whalley, L.J., Urbaniak, S.J., Darg, C., Peutherer, J.F., Christie, J.E. Acta psychiatrica Scandinavica. (1980) [Pubmed]
  8. Propylthiouracil-associated hemolytic anemia, thrombocytopenia, and antinuclear antibodies in cats with hyperthyroidism. Peterson, M.E., Hurvitz, A.I., Leib, M.S., Cavanagh, P.G., Dutton, R.E. J. Am. Vet. Med. Assoc. (1984) [Pubmed]
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  10. Passive avoidance in syndromes of disinhibition: psychopathy and extraversion. Newman, J.P., Widom, C.S., Nathan, S. Journal of personality and social psychology. (1985) [Pubmed]
  11. A trial of desmopressin (1-desamino-8-D-arginine vasopressin) to reduce blood loss in uncomplicated cardiac surgery. Hackmann, T., Gascoyne, R.D., Naiman, S.C., Growe, G.H., Burchill, L.D., Jamieson, W.R., Sheps, S.B., Schechter, M.T., Townsend, G.E. N. Engl. J. Med. (1989) [Pubmed]
  12. Alpha-adrenergic hyper-responsiveness in asthma. Henderson, W.R., Shelhamer, J.H., Reingold, D.B., Smith, L.J., Evans, R., Kaliner, M. N. Engl. J. Med. (1979) [Pubmed]
  13. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Ueda, H., Howson, J.M., Esposito, L., Heward, J., Snook, H., Chamberlain, G., Rainbow, D.B., Hunter, K.M., Smith, A.N., Di Genova, G., Herr, M.H., Dahlman, I., Payne, F., Smyth, D., Lowe, C., Twells, R.C., Howlett, S., Healy, B., Nutland, S., Rance, H.E., Everett, V., Smink, L.J., Lam, A.C., Cordell, H.J., Walker, N.M., Bordin, C., Hulme, J., Motzo, C., Cucca, F., Hess, J.F., Metzker, M.L., Rogers, J., Gregory, S., Allahabadia, A., Nithiyananthan, R., Tuomilehto-Wolf, E., Tuomilehto, J., Bingley, P., Gillespie, K.M., Undlien, D.E., Rønningen, K.S., Guja, C., Ionescu-Tîrgovişte, C., Savage, D.A., Maxwell, A.P., Carson, D.J., Patterson, C.C., Franklyn, J.A., Clayton, D.G., Peterson, L.B., Wicker, L.S., Todd, J.A., Gough, S.C. Nature (2003) [Pubmed]
  14. Role of the thrombin receptor in development and evidence for a second receptor. Connolly, A.J., Ishihara, H., Kahn, M.L., Farese, R.V., Coughlin, S.R. Nature (1996) [Pubmed]
  15. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Julier, C., Hyer, R.N., Davies, J., Merlin, F., Soularue, P., Briant, L., Cathelineau, G., Deschamps, I., Rotter, J.I., Froguel, P. Nature (1991) [Pubmed]
  16. The molecular genetics of autoimmune liver disease. Donaldson, P., Doherty, D., Underhill, J., Williams, R. Hepatology (1994) [Pubmed]
  17. In vivo effects of sex steroids on lymphocyte responsiveness and immunoglobulin levels in humans. Giltay, E.J., Fonk, J.C., von Blomberg, B.M., Drexhage, H.A., Schalkwijk, C., Gooren, L.J. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  18. Organization of the gene for platelet glycoprotein IIb. Heidenreich, R., Eisman, R., Surrey, S., Delgrosso, K., Bennett, J.S., Schwartz, E., Poncz, M. Biochemistry (1990) [Pubmed]
  19. Effects of singular and combined dietary deficiencies of selenium and vitamin E on fingerling channel catfish (Ictalurus punctatus). Gatlin, D.M., Poe, W.E., Wilson, R.P. J. Nutr. (1986) [Pubmed]
  20. Regulation and regulatory role of gamma-carboxyglutamic acid containing clotting factors. Kalafatis, M., Egan, J.O., van't Veer, C., Mann, K.G. Crit. Rev. Eukaryot. Gene Expr. (1996) [Pubmed]
  21. Prolonged bleeding times and bleeding diathesis associated with moxalactam administration. Weitekamp, M.R., Aber, R.C. JAMA (1983) [Pubmed]
  22. Encephalitogenic T cell clones specific for myelin basic protein. An unusual bias in antigen recognition. Zamvil, S.S., Nelson, P.A., Mitchell, D.J., Knobler, R.L., Fritz, R.B., Steinman, L. J. Exp. Med. (1985) [Pubmed]
  23. A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Newman, B., Gu, X., Wintle, R., Cescon, D., Yazdanpanah, M., Liu, X., Peltekova, V., Van Oene, M., Amos, C.I., Siminovitch, K.A. Gastroenterology (2005) [Pubmed]
  24. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Noble, C.L., Nimmo, E.R., Drummond, H., Ho, G.T., Tenesa, A., Smith, L., Anderson, N., Arnott, I.D., Satsangi, J. Gastroenterology (2005) [Pubmed]
  25. Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. Keicho, N., Ohashi, J., Tamiya, G., Nakata, K., Taguchi, Y., Azuma, A., Ohishi, N., Emi, M., Park, M.H., Inoko, H., Tokunaga, K., Kudoh, S. Am. J. Hum. Genet. (2000) [Pubmed]
  26. Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. Kyriakides, T.R., Zhu, Y.H., Smith, L.T., Bain, S.D., Yang, Z., Lin, M.T., Danielson, K.G., Iozzo, R.V., LaMarca, M., McKinney, C.E., Ginns, E.I., Bornstein, P. J. Cell Biol. (1998) [Pubmed]
  27. Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Jawaheer, D., Li, W., Graham, R.R., Chen, W., Damle, A., Xiao, X., Monteiro, J., Khalili, H., Lee, A., Lundsten, R., Begovich, A., Bugawan, T., Erlich, H., Elder, J.T., Criswell, L.A., Seldin, M.F., Amos, C.I., Behrens, T.W., Gregersen, P.K. Am. J. Hum. Genet. (2002) [Pubmed]
  28. Myelin oligodendrocyte glycoprotein induces experimental autoimmune encephalomyelitis in the "resistant" Brown Norway rat: disease susceptibility is determined by MHC and MHC-linked effects on the B cell response. Stefferl, A., Brehm, U., Storch, M., Lambracht-Washington, D., Bourquin, C., Wonigeit, K., Lassmann, H., Linington, C. J. Immunol. (1999) [Pubmed]
  29. Inherited deficiency of erythrocyte complement receptor type 1 does not cause susceptibility to systemic lupus erythematosus. Moldenhauer, F., David, J., Fielder, A.H., Lachmann, P.J., Walport, M.J. Arthritis Rheum. (1987) [Pubmed]
  30. Absence of platelet endothelial cell adhesion molecule-1 (CD31) leads to increased severity of local and systemic IgE-mediated anaphylaxis and modulation of mast cell activation. Wong, M.X., Roberts, D., Bartley, P.A., Jackson, D.E. J. Immunol. (2002) [Pubmed]
  31. Studies of Factors V and VIII:C in an animal model of disseminated intravascular coagulation. Giles, A.R., Nesheim, M.E., Mann, K.G. J. Clin. Invest. (1984) [Pubmed]
  32. A combination of HLA-DQ beta Asp57-negative and HLA DQ alpha Arg52 confers susceptibility to insulin-dependent diabetes mellitus. Khalil, I., d'Auriol, L., Gobet, M., Morin, L., Lepage, V., Deschamps, I., Park, M.S., Degos, L., Galibert, F., Hors, J. J. Clin. Invest. (1990) [Pubmed]
  33. Allelic basis for HLA-encoded susceptibility to type 1 autoimmune hepatitis. Strettell, M.D., Donaldson, P.T., Thomson, L.J., Santrach, P.J., Moore, S.B., Czaja, A.J., Williams, R. Gastroenterology (1997) [Pubmed]
  34. Arabidopsis dth9 mutation identifies a gene involved in regulating disease susceptibility without affecting salicylic acid-dependent responses. Mayda, E., Mauch-Mani, B., Vera, P. Plant Cell (2000) [Pubmed]
  35. Antagonistic interaction between abscisic acid and jasmonate-ethylene signaling pathways modulates defense gene expression and disease resistance in Arabidopsis. Anderson, J.P., Badruzsaufari, E., Schenk, P.M., Manners, J.M., Desmond, O.J., Ehlert, C., Maclean, D.J., Ebert, P.R., Kazan, K. Plant Cell (2004) [Pubmed]
  36. Sex influences on the penetrance of HLA shared-epitope genotypes for rheumatoid arthritis. Meyer, J.M., Han, J., Singh, R., Moxley, G. Am. J. Hum. Genet. (1996) [Pubmed]
  37. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Capon, F., Allen, M.H., Ameen, M., Burden, A.D., Tillman, D., Barker, J.N., Trembath, R.C. Hum. Mol. Genet. (2004) [Pubmed]
  38. Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. Barcellos, L.F., Begovich, A.B., Reynolds, R.L., Caillier, S.J., Brassat, D., Schmidt, S., Grams, S.E., Walker, K., Steiner, L.L., Cree, B.A., Stillman, A., Lincoln, R.R., Pericak-Vance, M.A., Haines, J.L., Erlich, H.A., Hauser, S.L., Oksenberg, J.R. Ann. Neurol. (2004) [Pubmed]
  39. Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. Shen, L., Wu, L.C., Sanlioglu, S., Chen, R., Mendoza, A.R., Dangel, A.W., Carroll, M.C., Zipf, W.B., Yu, C.Y. J. Biol. Chem. (1994) [Pubmed]
  40. HLA-B27 misfolding in transgenic rats is associated with activation of the unfolded protein response. Turner, M.J., Sowders, D.P., DeLay, M.L., Mohapatra, R., Bai, S., Smith, J.A., Brandewie, J.R., Taurog, J.D., Colbert, R.A. J. Immunol. (2005) [Pubmed]
  41. Interleukin-6 promoter polymorphism (--174 G/C) in Caucasian German patients with systemic lupus erythematosus. Schotte, H., Schlüter, B., Rust, S., Assmann, G., Domschke, W., Gaubitz, M. Rheumatology (Oxford, England) (2001) [Pubmed]
  42. Safety and efficacy of holmium: YAG laser lithotripsy in patients with bleeding diatheses. Watterson, J.D., Girvan, A.R., Cook, A.J., Beiko, D.T., Nott, L., Auge, B.K., Preminger, G.M., Denstedt, J.D. J. Urol. (2002) [Pubmed]
  43. DLA-DRB1 polymorphisms in dogs defined by sequence-specific oligonucleotide probes (SSOP). Kennedy, L.J., Carter, S.D., Barnes, A., Bell, S., Bennett, D., Ollier, B., Thomson, W. Tissue Antigens (1999) [Pubmed]
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