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Arch Pediatr Adolesc Med. 2009 Jun;163(6):542-6. doi: 10.1001/archpediatrics.2009.74.

HLA-DR4 as a risk allele for autism acting in mothers of probands possibly during pregnancy.

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  • 1Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, 675 Hoes Lane, Piscataway, NJ 08854, USA. wjohnson@umdnj.edu

Abstract

OBJECTIVES:

To test whether HLA-DR4 acts in the mother, possibly during pregnancy, to contribute to the phenotype of autistic disorder in her fetus.

DESIGN:

Transmission disequilibrium testing in case mothers and maternal grandparents.

SETTING:

Previous studies have consistently shown increased frequency of HLA-DR4 in probands with autism and their mothers, but not their fathers. However, this has been documented only in case-control studies and not by a more direct study design to determine whether HLA-DR4 acts in mothers during pregnancy to contribute to autism in their affected offspring.

PARTICIPANTS:

We genotyped for HLA-DR alleles in members of 31 families with parents and maternal grandparents. Probands with autism were tested using the Autism Diagnostic Observation Schedule-Western Psychological Services and Autism Diagnostic Interview, Revised. There was 80% power to detect an odds ratio of 3.6. Participants were all families from New Jersey and were similar in number to earlier studies of autism and HLA-DR4.

OUTCOME MEASURES:

Analysis was by standard transmission disequilibrium testing. As a secondary test we examined the possibility of maternal imprinting.

RESULTS:

Significant transmission disequilibrium for HLA-DR4 was seen (odds ratio, 4.67; 95% confidence interval, 1.34-16.24; P = .008) for transmissions from maternal grandparents to mothers of probands, supporting a role for HLA-DR4 as an autism risk factor acting in mothers during pregnancy. Transmission disequilibrium was not seen for HLA-DR4 transmissions from parents to probands or from mothers to probands.

CONCLUSIONS:

The HLA-DR4 gene may act in mothers of children with autism during pregnancy to contribute to autism in their offspring. Further studies are required to confirm these findings.

PMID:
19487610
[PubMed - indexed for MEDLINE]
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