Association of Y chromosome haplotypes with autism.
There is significant male excess in autism. In this study, we investigated a possible Y chromosome effect by haplotype analysis. We investigated 12 single-nucleotide polymorphisms in Y-linked neuroligin 4, transducin beta-like 1, and eukaryotic translation initiation factor 1a genes in 146 autistic participants and 102 control participants of European American origin. The set of 12 single-nucleotide polymorphisms defined 9 Y chromosome haplotypes in autistic and control participants. Although the 2 most frequent haplotypes were equally distributed in the autistic and control participants, some haplotypes were overrepresented or underrepresented in autistic participants. The distribution of haplotypes between the autistic and control groups, as determined by Monte Carlo tests with Clump software, was significantly different (P = .0001 with 100,000 simulations). Our results are suggestive of a Y chromosome effect in autism.
Serajee
Fatema J
FJ
Department of Pediatrics, Wayne State University, Detroit, Michigan, USA.
Mahbubul Huq
A H M
AH
D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D015816:Cell Adhesion Molecules, Neuronal; D041322:Chromosomes, Human, Y; D003198:Computer Simulation; D015977:Eukaryotic Initiation Factor-1 / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009010:Monte Carlo Method; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D015293:Transducin / Q000235:genetics*; D014481:United States; D044465:White People / Q000235:genetics
D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; C546513:EIF1AY protein, human; D015977:Eukaryotic Initiation Factor-1; D008565:Membrane Proteins; C430845:NLGN4X protein, human; C485612:TBL1Y protein, human; D015293:Transducin