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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia
Noa Carrera1, Manuel Arrojo, Julio Sanjuán
1Fundación Pública Galega de Medicina Xenómica-SERGAS, Hospital Clínico Universitario, Santiago de Compostela, Spain.
Biological Psychiatry
|November 15, 2011
Summary
This study identified a specific gene variant, rs13107325 in SLC39A8, associated with schizophrenia risk. This finding suggests a role for brain metal ion transport in psychosis development.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Genome-wide association studies (GWAS) often lack statistical power due to the vast number of markers analyzed.
- Focusing on common nonsynonymous single nucleotide polymorphisms (nsSNPs) reduces multiple testing and increases the likelihood of identifying functional variants.
Purpose of the Study:
- To investigate the association between common nsSNPs and schizophrenia risk.
- To identify specific genetic variants contributing to schizophrenia susceptibility.
- To explore the role of metal ion homeostasis in psychosis.
Main Methods:
- A case-control association study using common nsSNPs in a Galician sample.
- Utilized the Affymetrix GeneChip Human 20k cSNP Kit for initial discovery.
- Replication study in a large European cohort and multilocus analysis were performed.
Main Results:
- One SNP, rs13107325 in the metal ion transporter gene SLC39A8, showed significant association with schizophrenia in the combined sample (p = 2.7 × 10(-6)).
- This SNP has a minor allele frequency of 5-10% in European populations.
- Confirmed a polygenic component contributing to schizophrenia susceptibility.
Conclusions:
- The findings highlight a potential role for brain metal homeostasis in the development of psychosis.
- The identified SNP rs13107325 in SLC39A8 is implicated in schizophrenia risk.
- Association of SLC39A3 with bipolar disorder further supports the link between metal ion transport and psychiatric disorders.
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