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


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Disease relevance of Haplotypes


Psychiatry related information on Haplotypes


High impact information on Haplotypes

  • A search for congenic pairs of mice expressing the responder and nonresponder H2 haplotypes on the same background revealed that these strains responded as a function of their H2 haplotype, not of their inbred background [11].
  • We refined the chromosomal interval using homozygosity mapping and haplotype analyses and identified the MMACHC gene [12].
  • This gene is the strongest candidate among the 42 genes in the Idd5.2 region; a naturally occurring mutation in the protective Idd5.2 haplotype results in loss of function of the Nramp1 protein [13].
  • Combined analysis of the C2 and BF haplotypes and CFH variants shows that variation in the two loci can predict the clinical outcome in 74% of the affected individuals and 56% of the controls [14].
  • We found that natural killer cell-activating receptor Ly49P specifically recognized MCMV-infected cells, dependent on the presence of the H2 (k) haplotype [15].

Chemical compound and disease context of Haplotypes


Biological context of Haplotypes


Anatomical context of Haplotypes

  • The aberrant expression of tctex-1 is solely dependent on the t haplotype genes and occurs only in germ cells [25].
  • The suppression induced by this monoclonal T-cell product is restricted by both H-2 and Igh-1 genes whereas anti-HEL antibodies bearing a predominant idiotype are induced in all mice strains tested, irrespective of their H-2 haplotype or Igh-1 allotype [26].
  • Tumor targets and concanovalin A (ConA) lymphoblasts from a variety of H2 haplotypes were examined for their susceptibility to lysis by Ly-49D+ NK cells [27].
  • Normal individuals with an HLA haplotype containing either DR2, MT1, or B8/DR3 are more likely to have abnormally prolonged Fc receptor-mediated mononuclear phagocyte system (MPS) clearance of IgG-sensitized autologous erythrocytes than their normal counterparts without such haplotypes [28].
  • The analysis of athymic radiation chimeras using adult thymectomized recipients of distinct H-Y/H-2 haplotypes, reconstituted with bone marrow from H-2Db transgenic females, demonstrates that all IEL subsets present in unmanipulated transgenic animals develop in the absence of a thymus [29].

Associations of Haplotypes with chemical compounds

  • The haplotype confers a higher risk of glucose intolerance and T2D to obese children and their parents and associates with increased serum levels of soluble ENPP1 protein in children [30].
  • We have now isolated and sequenced A alpha cDNA clones from five other mouse haplotypes: d, b, f, u, and q [23].
  • A significantly increased frequency (P less than 0.03) of the HLA-DR2 haplotype occurred in the eight patients with the most substantial response to methotrexate [31].
  • Comparison of the sequences of the polymorphic amino-terminal domain of the DQ beta chain showed that the three 'susceptibility' haplotypes all had a neutral alanine or valine at position 57 [32].
  • We studied 17 members of this family and found a low C3 level from activation of the alternative pathway in the haplotype A3,B7 carriers [33].

Gene context of Haplotypes


Analytical, diagnostic and therapeutic context of Haplotypes

  • In a two-stage, case-control study, we analyzed the frequency of MHC class I antigens and class II haplotypes in people with either transient or persistent HBV infection [39].
  • Since most patients have a relative with one haplotype mismatch, advances in this method will increase the availability of hematopoietic-cell transplantation as curative therapy for acute leukemia [40].
  • Gene mapping within the T/t complex of the mouse. II. Anomalous position of the H-2 complex in t haplotypes [41].
  • Blood transfusion in which there is a common HLA haplotype or shared HLA-B and HLA-DR antigens induces tolerance to donor antigens [42].
  • In a meta-analysis of over 900 individuals from Sweden and over 1,000 individuals from Belgium and England, we now report that subjects homozygous with respect to the haplotypes -2,578A/-1,154A/-634G or -2,578A/-1,154G/-634G in the VEGF promoter/leader sequence had a 1.8 times greater risk of ALS (P = 0.00004) [43].


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  12. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Lerner-Ellis, J.P., Tirone, J.C., Pawelek, P.D., Doré, C., Atkinson, J.L., Watkins, D., Morel, C.F., Fujiwara, T.M., Moras, E., Hosack, A.R., Dunbar, G.V., Antonicka, H., Forgetta, V., Dobson, C.M., Leclerc, D., Gravel, R.A., Shoubridge, E.A., Coulton, J.W., Lepage, P., Rommens, J.M., Morgan, K., Rosenblatt, D.S. Nat. Genet. (2006) [Pubmed]
  13. In vivo RNA interference demonstrates a role for Nramp1 in modifying susceptibility to type 1 diabetes. Kissler, S., Stern, P., Takahashi, K., Hunter, K., Peterson, L.B., Wicker, L.S. Nat. Genet. (2006) [Pubmed]
  14. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Gold, B., Merriam, J.E., Zernant, J., Hancox, L.S., Taiber, A.J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G.R., Smith, R.T., Hageman, G.S., Dean, M., Allikmets, R., Chang, S., Yannuzzi, L.A., Merriam, J.C., Barbazetto, I., Lerner, L.E., Russell, S., Hoballah, J., Hageman, J., Stockman, H. Nat. Genet. (2006) [Pubmed]
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  19. HLA haplotypes and glucose tolerance in families of patients with juvenile-onset diabetes mellitus. Landgraf, R., Landgraf-Leurs, M.M., Lander, T., Scholz, S., Kuntz, B., Albert, E.D. Lancet (1976) [Pubmed]
  20. Inherited deficiency of second component of complement and HLA haplotype A10,B18 associated with inflammatory bowel disease. Slade, J.D., Luskin, A.T., Gewurz, H., Kraft, S.C., Kirsner, J.B., Zeitz, H.J. Ann. Intern. Med. (1978) [Pubmed]
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  24. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Ben Hamida, C., Doerflinger, N., Belal, S., Linder, C., Reutenauer, L., Dib, C., Gyapay, G., Vignal, A., Le Paslier, D., Cohen, D. Nat. Genet. (1993) [Pubmed]
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  43. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Lambrechts, D., Storkebaum, E., Morimoto, M., Del-Favero, J., Desmet, F., Marklund, S.L., Wyns, S., Thijs, V., Andersson, J., van Marion, I., Al-Chalabi, A., Bornes, S., Musson, R., Hansen, V., Beckman, L., Adolfsson, R., Pall, H.S., Prats, H., Vermeire, S., Rutgeerts, P., Katayama, S., Awata, T., Leigh, N., Lang-Lazdunski, L., Dewerchin, M., Shaw, C., Moons, L., Vlietinck, R., Morrison, K.E., Robberecht, W., Van Broeckhoven, C., Collen, D., Andersen, P.M., Carmeliet, P. Nat. Genet. (2003) [Pubmed]
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