Immunogenetic studies in autism and related disorders (original) (raw)

Abstract

The major histocompatibility complex comprises a number of genes that control the function and regulation of the immune system. One of these genes, the C4B gene, encodes a product that is involved in eliminating pathogens such as viruses and bacteria from the body. We previously reported that a deficient form of the C4B gene, termed the C4B null allele (no C4B protein produced) had an increased frequency in autism. In this study we attempted to confirm the increased incidence of the C4B null allele in autism and investigated the presence of a C4B null allele in two other childhood disorders, attention-deficit hyperactivity disorder and dyslexia (reading disability). In addition, we explored the relationship of autism to the DRβ1 gene, a gene located close to the C4B in autism. We confirmed the finding of an increased frequency of the C4B null allele in autism and found that the related disorders also had an increased frequency of this null allele. In addition, two alleles of the DRβ1 gene also had significantly increased representation in the autistic subjects.

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References

• Awdeh Z. L., Raum D., Yunis E. J., and Alper C. A. (1983) Extended HLA complement allele haplotypes: evidence for T/t-like complex in man.Proc. Natl. Acad. Sci. 80, 259–263.
  Article CAS Google Scholar
• Bell J. I., Denney D., Jr., Foster L., Belt T., and McDevitt H. O. (1987) Allelic variation in the DR subregions of the human major histocompatibility complex.Proc. Natl. Acad. Sci. USA 84, 6234–6238.
  Article CAS Google Scholar
• Isenman D. E. and Young J. R. (1986) Covalent binding of the C4A and C4B isotypes of the fourth component of human complement on several C1 bearing-cell surfaces.J. Immunol. 136, 2542–2550.
  CAS PubMed Google Scholar
• Kahl L. E. and Atkinson J. P. (1988) Autoimmune aspects of complement deficiency.Clin. Aspects Autoimmun. 2, 8–14.
  Google Scholar
• Ruddick C., Beckman L., Frazen G., Jacobsson L., and Lindstrom L. (1985) Complement factor C4 in schizophrenia.Hum. Heredity 35, 223–226.
  Article Google Scholar
• Warren R. P., Singh V. K., Cole P., Odell J. D., Pingree C. B., Warren W. L., and White E. (1991) Increased frequency of the null allele at the complement C4B locus in autism.Clin. Exp. Immunol. 83, 438–440.
  Article CAS Google Scholar
• Warren R. P., Burger R. A., Odell D., Torres A. R., and Warren W. L. (1994) Decreased plasma concentrations of the C4B complement protein in autism.Arch. Pediatr. and Adolesc. Med. 148, 180–183.
  Article CAS Google Scholar
• Warren R. P., Singh V. K., Cole P., Odell J. D., Pingree C. B., Warren W. L., DeWitt C. W., and McCullough M. (1992) Possible association of the extended MHC haplotype B44-SC30-DR4 with autism.Immunogenetics 36, 203–207.
  Article CAS Google Scholar
• Winchester R. (1995) in_Samter's Immunologic Diseases_, 5th ed. (Frank M. M., Austen K. F., Claman H. N., and Unanue E. R., eds.), Little, Brown and Co., Boston, pp. 699–757.
  Google Scholar

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Authors and Affiliations

1. Utah State University, 84322, Logan, Utah
   R. P. Warren, R. E. Averett, J. D. Odell, A. Maciulis, R. A. Burger, W. W. Daniels & W. L. Warren
2. The University of Michigan, Ann Arbor, MI
   V. K. Singh

Authors

1. R. P. Warren
2. V. K. Singh
3. R. E. Averett
4. J. D. Odell
5. A. Maciulis
6. R. A. Burger
7. W. W. Daniels
8. W. L. Warren

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Warren, R.P., Singh, V.K., Averett, R.E. et al. Immunogenetic studies in autism and related disorders.Molecular and Chemical Neuropathology 28, 77–81 (1996). https://doi.org/10.1007/BF02815207

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• Received: 07 April 1995
• Accepted: 20 July 1995
• Published: 01 May 1996
• Issue date: May 1996
• DOI: https://doi.org/10.1007/BF02815207

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