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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Y chromosome haplogroups in autistic subjects
S Jamain1, H Quach, L Quintana-Murci
1Laboratoire d'Immunogénétique Humaine, INSERM E021, Institut Pasteur, 75015 Paris, France.
Molecular Psychiatry
|February 13, 2002
Summary
The male to female ratio in autism is higher in individuals without physical abnormalities. This study investigated the Y chromosome
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Autism Spectrum Disorder (ASD)
Background:
- Autism Spectrum Disorder (ASD) exhibits a significant male predominance, with ratios varying based on the presence of physical or brain abnormalities.
- The genetic basis for this male predisposition remains largely unexplained, with the role of sex chromosomes under ongoing investigation.
- Previous research has explored chromosomal abnormalities, but genome scans have limitations in assessing the non-recombining region of the Y chromosome.
Purpose of the Study:
- To investigate a potential specific effect of the Y chromosome on the predisposition to autism.
- To analyze Y chromosome haplotypes in a cohort of autistic individuals and compare them with control populations.
Main Methods:
- Utilized Y-polymorphic markers to define Y chromosome haplotypes.
- Collected data from 111 autistic subjects across France, Sweden, and Norway.
- Compared Y-haplotype distributions between autistic subjects and relevant control groups.
Main Results:
- No significant differences were observed in the distribution of Y chromosome haplotypes between the autistic cohort and control populations.
- The study found no statistical evidence to suggest a Y chromosome effect contributing to autism susceptibility.
Conclusions:
- While a Y chromosome susceptibility gene cannot be definitively excluded, the current findings do not support a significant role for the Y chromosome in autism.
- Further research may be needed to explore other genetic or environmental factors contributing to the male predisposition in autism.
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