Summary
Studies of the possible relationship between malformations of the neuraxis and the human major histocompatibility complex have been contributive to the search for a human equivalent of the murine T/t complex. We conducted a population and family study in 34 Japanese couples together with their children with neural tube defects. HLA-DR homozygosity among the affected children was significantly increased as compared with that in controls. HLA-DR and DQ maternal-paternal sharing was also significantly higher than the controls. Significantly higher frequencies of A11 (father), B35 (mother) and A11 (affected children) were observed. These data support the hypothesis that a T/t-like complex in or near the HLA complex might be etiologically related to neural tube defects.
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Amos, D.B., Ruderman, N., Mendell, N., and Johnson, A.H. 1975. Linkage between HLA and spinal development.Transpl. Proc. 7: 93–95.
Bennett, D. 1975. The T-locus of the mouse.Cell 6: 441–454.
Bobrow, M., Bodmer, J.G., Bodmer, W.F., McDevitt, H.O., Lorber, J., and Swift, P. 1978. The search for a human equilvalent of the mouse T-locus-negative results from a study of HLA-types in spina bifida.Tissue Antigens 5: 234–237.
Book, J.A. and Rayner, S. 1950. A clinical and genetic study of anencephaly.Am. J. Hum. Genet. 2: 61–84.
Buc-Caron, M., Gachelin, G., Hofnung, M., and Jacob, F. 1974. Presence of a mouse embryonic antigen on human spermatozoa.Proc. Natl. Acad. Sci. USA 71: 1730–1733.
Carter, C.O., David, P.A., and Laurence, K.M. 1968. A family study of major central nervous system malformations in South Wales.J. Med. Genet. 5: 81–106.
Carter, C.O. 1968. Genetics of common disorders.Br. Med. Bull. 25: 52–57.
Carter, C.O. 1970.Congenital Malformations. Excerpta Medica, Amsterdam.
Carter, C.O. and Evans, K. 1973. Spina bifida and anencephaly in Greater London.J. Med. Genet. 10: 209–234.
Carter, C.O. 1976. Genetics of common single malformations.Br. Med. Bull. 32: 21–26.
Danilovs, J., Terasaki, P.I., Park, M.S., and Ayoub, G. 1978. B-lymphocyte isolation by thrombin nylon wool. 8th International Histocompatibility Workshop, Newsletter, 6.
Dausset, J. 1977. HLA complex in human biology in the light of associations with disease.Transplant. Proc. 9: 523–529.
Dausset, J. and Svejgaard, A. 1977.HLA and Disease. Munksgaard Copenhagen.
Feingold, J., Feingold, N., and Bois, E. 1980. Geographic correlation with the HLA system.Tissue Antigens 15: 318–324.
Fraser, F.C. 1976. The multifactorial threshold concept-uses and misues.Teratology 14: 267–280.
Hogan, B., Fellous, M., Arner, P., and Jacob, F. 1977. Isolation of a human teratoma cell line which expresses F9 antigen.Nature 270: 515–518.
Holden, S., Bernard, O., Artzt, K., Whitmore, A., and Bennett, D. 1977. Human and mouse embryonal carcinoma cells in culture share an embryoinc, antigen (F9).Nature 270: 518–520.
Imaizumi, Y. 1977. Incidence of spina bifida and parental consanguinity in Japan.Cong. Anoma. 17: 471–478.
Jacob, F. 1977. Mouse teratocarcinoma and embryonic, antigens.Immunol. Rev. 33: 3–32.
Klein, J. and Hammerburg, C. 1977. The control of differentiation by the T-complex.Immunol. Rev. 33: 70–104.
Macri, J.N., Baker, D.A., and Baim, R.S. 1981. Diagnosis of neural tube defects by evaluation of amniotic fluid.Clin. Obstet. Gynaec. 24: 1089–1102.
Mendell, N.R. 1974. Spina bifida and the HLA system: evidence for linkage.Am. J. Hum. Genet. 26: 60.
Naito, S. 1986. The association of HLA with diseases in Japanese.Jpn. J. Human Genet. 31: 323–329.
Penrose, L.S. 1957. Genetics of anencephaly.J. Ment. Defic. Res. 1: 4–15.
Penrose, L.S. 1946. Familial data on 144 cases of anencephaly, spina bifida and congenital hydrocephaly.Ann. Eugenics 13: 73–98.
Pietrzyk, J.J. and Turowski, G. 1976. Antygeny HLA; genetyczne determinanty choroby.Pol. Arch. Med. Wewn. 55: 487–498.
Pious, D. 1975. Cell surfaces genetics and congenital malformations.J. Pediatr. 86: 162–188.
Polman, A. 1951. Anencephaly, spina bifida and hydrocephaly.Genetica 25: 29–31.
Richards, I.D., McIntosh, H.T., and Sweenie, S. 1972. A genetic study of anencephaly and spina bifida in Glasgow.Dev. Med. Child. Nerol. 14: 626–639.
Schacter, B., Muir, A., Gyves, M., and Tasin, M. 1979. HLA-A, B compatibility in parents of offspring with neural tube defects or couples experiencing involuntary fetal wastage.Lancet I: 796–799.
Snell, G.D., Dausset, J., and Nathenson, S. 1976. Histocompatibility genes and disease. InHistocompatibility, Snell, G.D., Dausset, J., and Nathenson, S., eds., Academic Press, New York, pp. 324–389.
Terasaki, P.I., Bernoco, D., Park, M.S., Ozturk, G., and Iwaki, Y. 1978. Microdroplet testing for HLA-A, B, C, and D antigenes.Am. J. Clin. Pathol. 69: 103–120.
Vannier, J.P., Cavelier, B., Martin, J.P., Lefort, J., Rivat, L., and Feingold, 1980. HLA, Pi, Gm, Km phenotypes in a spina bifida population with myelomeningocele.Tissue Antigens 15: 501–504.
Williamson, E.M. 1965. Incidence and family aggregation of major congenital malformation of central nervous system.J. Med. Genet. II: 161–172.
Yen, S. and MacMahon, B. 1968. Genetics of anencephaly and spina bifida.Lancet II: 623–626.
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Wong, A.C.W., Aoki, K., Yagami, Y. et al. HLA-DR, DRw52.53, and DQ homozygosity in patients with neural tube defects. Jap J Human Genet 32, 319–327 (1987). https://doi.org/10.1007/BF01910288
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DOI: https://doi.org/10.1007/BF01910288