The Relationship of HLA Class I and II Alleles and Haplotypes with Autism : A Case Control Study

Abstract EN

Earlier reports showed the relationship between autism and immune genes located in the human leukocyte antigen (HLA).

In this current study, we compared the HLA class I and class II alleles and haplotypes in 35 autistic children with 100 control subjects from Saudi Arabia, using PCR-SSP method and Luminex technology.

In class I the HLA-A*01 (P=0.03, OR 2.68), A*02 (P=0.001, OR 3.02) and HLA-B*07 (P=0.01, OR 3.27), were significantly associated with autism.

Also, the haplotype A*02-B*07 was significantly higher in autistic patients than in controls (P=0.007, OR 5.83).

In class II, DRB1*1104 was significantly higher in patients than in controls (P=0.001, OR 8.75).

The DQB1*0202 (P=0.001, OR 0.24), DQB1*0302 (P=0.001, OR 0.14), and DQB1*0501 (P=0.012, OR 0.25), were negatively associated with disease.

While the four-loci genotype study showed that A*01-B*07-DRB1*0701-DQB1*0602 (P=0.001, OR 41.9) and the A*31-B*51-DRB1*0103-DQB1*0302 (P=0.012, OR 4.8) are positively associated with autism among Saudi patients.

This is the first report on a foreseeable risk of association of HLA-B*07 allele with autism.

Thus, HLA-B*07 allele and the closely linked haplotype A*01 B*07 DRB1*0701 DQB1*0602 may serve as a marker for genetic susceptibility to autism in Saudis.