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Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study
For-Wey Lung1, Bih-Ching Shu, Wei-Tsung Kao
1Department of Psychiatry, Kaohsiung Armed Forces General Hospital, Kaohsiung, Taiwan. forwey@seed.net.tw
BMC Medical Genetics
|December 31, 2009
Summary
The dopamine D4 receptor (DRD4) gene's long form variants are linked to schizophrenia risk. The TP53 gene's codon 72 polymorphism showed no significant association with schizophrenia in this study.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- The TP53 tumor suppressor gene is implicated in neural apoptosis.
- Polymorphisms in TP53 (codon 72) and DRD4 (uVNTR) are potential risk factors for schizophrenia.
Purpose of the Study:
- To investigate the association between TP53 codon 72 and DRD4 uVNTR polymorphisms and schizophrenia susceptibility.
- To determine if these genetic variations contribute to schizophrenia risk.
Main Methods:
- Genotyping of TP53 codon 72 and DRD4 uVNTR polymorphisms using PCR-RFLP and direct sequencing.
- Recruitment of 934 schizophrenia patients and 433 healthy controls.
Main Results:
- No significant difference in TP53 codon 72 genotype frequencies between patients and controls.
- Long form alleles of DRD4 uVNTR were more frequent in schizophrenia patients (p=0.001), indicating a potential risk factor (OR=3.189).
- DRD4 long form variants predicted schizophrenia risk independently of age and gender (p=0.036).
Conclusions:
- Long form DRD4 uVNTR variants are associated with schizophrenia risk, independent of TP53 codon 72.
- TP53 codon 72 polymorphism has a minimal genetic effect and is unlikely associated with schizophrenia.
- Further research on other SNPs in TP53 and apoptosis-related genes is recommended for understanding schizophrenia pathogenesis.
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