Immunogenetic studies in autism and related disorders

Mol Chem Neuropathol. May-Aug 1996;28(1-3):77-81. doi: 10.1007/BF02815207.

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 frequently 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 DR beta 1 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 DR beta 1 gene also had significantly increased representation in the autistic subjects.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Amino Acid Sequence
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Attention Deficit Disorder with Hyperactivity / immunology
  • Autistic Disorder / genetics*
  • Autistic Disorder / immunology*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Complement C4b / genetics*
  • HLA-DR Antigens / chemistry
  • HLA-DR Antigens / genetics
  • HLA-DRB1 Chains
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / immunology
  • Learning Disabilities / genetics
  • Learning Disabilities / immunology
  • Major Histocompatibility Complex*
  • Molecular Sequence Data

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • Complement C4b