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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
A systematic genomewide linkage study in 353 sib pairs with schizophrenia
N M Williams1, N Norton, H Williams
1Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom.
American Journal of Human Genetics
|November 25, 2003
Summary
This study identified significant genetic linkage regions for schizophrenia on chromosome 10q25.3-q26.3 using affected sib pairs. Further suggestive linkage was found on chromosomes 17p11.2-q25.1 and 22q11.
Area of Science:
- Genetics
- Psychiatric Disorders
- Genomewide Association Studies
Background:
- Schizophrenia is a complex psychiatric disorder with a significant genetic component.
- Identifying specific genetic loci is crucial for understanding disease mechanisms and developing targeted therapies.
Purpose of the Study:
- To conduct a genomewide linkage analysis in affected sib pairs (ASPs) with schizophrenia to identify susceptibility loci.
- To provide evidence supporting specific chromosomal regions for further investigation in schizophrenia genetics.
Main Methods:
- Genomewide linkage analysis was performed on 353 affected sib pairs from the UK, Sweden, and US.
- 372 microsatellite markers were genotyped at approximately 10-cM intervals.
- Statistical analysis included calculating LOD scores and genomewide significance based on simulations.
Main Results:
- A significant linkage signal was detected on chromosome 10q25.3-q26.3 (LOD score 3.87), with contributions from all sample cohorts.
- Highly suggestive linkage evidence was found for regions 17p11.2-q25.1 (maximum LOD score 3.35) and 22q11 (maximum LOD score 2.29).
- Strong evidence for linkage to 17p11.2-q25.1 was also observed in a single family with schizophrenia.
Conclusions:
- The study provides compelling evidence for three chromosomal regions (10q25.3-q26.3, 17p11.2-q25.1, and 22q11) implicated in schizophrenia susceptibility.
- These findings warrant detailed mapping studies to pinpoint specific genes contributing to schizophrenia.
- The results align with previous linkage studies, strengthening the evidence for these regions.
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