Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.
A recent report suggested that the HoxA1 and/or HoxB1 genes play a role in susceptibility to autism. To determine whether these findings could be confirmed, we screened these genes for DNA polymorphisms by sequencing all exons in 24 individuals with autism. We identified the same sequence variants in the genes that appeared in this report, which include one single-base substitution variant in HoxA1 and a common haplotype in HoxB1. We performed an association study by applying the transmission disequilibrium test to detect possible association of these variants to autism in 110 multiplex families. Our results demonstrated no deviation from the null hypothesis of no association. We have also separately examined transmissions within individual mating types, for paternal versus maternal alleles, to affected versus unaffected children, and for transmission to affected boys versus girls. None of these subsets revealed significant deviation from the null expectation. Our interpretation of these findings is that it is unlikely that HoxA1 and HoxB1 play a significant role in the genetic predisposition to autism.
Li
Jun
J
Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
Tabor
Holly K
HK
Nguyen
Loan
L
Gleason
Christopher
C
Lotspeich
Linda J
LJ
Spiker
Donna
D
Risch
Neil
N
Myers
Richard M
RM
D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D000099261:Homeobox A1 Protein
D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099261:Homeobox A1 Protein; C101121:HOXB1 homeodomain protein