Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping
2008

Study of Genes Linked to Schizophrenia on Chromosome 5q31-32

Sample size: 615 publication Evidence: moderate

Author Information

Author(s): Zaharieva Irina, Georgieva Lyudmila, Nikolov Ivan, Kirov George, Owen Michael J, O'Donovan Michael C, Toncheva Draga

Primary Institution: Department of Medical Genetics, Medical University Sofia

Hypothesis

We wanted to identify susceptibility genes for schizophrenia within the 5q31-32 region.

Conclusion

The study implicates three potential candidate genes for schizophrenia: SMAD5, TGFBI, and SPRY4.

Supporting Evidence

  • Seven markers showed suggestive evidence for association with schizophrenia.
  • Two markers were confirmed to be significantly associated with schizophrenia.
  • Fine mapping identified significant SNPs in the regions around the candidate genes.

Takeaway

Researchers looked at a specific part of a chromosome to find genes that might cause schizophrenia, and they found three possible genes that could be involved.

Methodology

The study used pooled DNA genotyping with microsatellite markers and followed up with SNP genotyping in a sample of schizophrenia trios.

Limitations

The findings may not survive correction for multiple testing, indicating the need for replication in other samples.

Participant Demographics

Participants were 300 schizophrenia patients of Bulgarian origin and their 600 parents.

Statistical Information

P-Value

p = 0.001 for rs7715300 and p = 0.032 for rs6897690

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-244X-8-11

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