Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study
<p>Abstract</p> <p>Background</p> <p>The tumour supressor gene TP53 is thought to be involved in neural apoptosis. The polymorphism at codon 72 in TP53 and the long form variants of the upstream variable number of tandem repeats (uVNTR) polymorphism in the dopamine D4 r...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2009-12-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/10/147 |
| _version_ | 1818559512883232768 |
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| author | Kao Wei-Tsung Shu Bih-Ching Lung For-Wey Chen C Nathan Ku Yu-Chi Tzeng Dong-Sheng |
| author_facet | Kao Wei-Tsung Shu Bih-Ching Lung For-Wey Chen C Nathan Ku Yu-Chi Tzeng Dong-Sheng |
| author_sort | Kao Wei-Tsung |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>The tumour supressor gene TP53 is thought to be involved in neural apoptosis. The polymorphism at codon 72 in TP53 and the long form variants of the upstream variable number of tandem repeats (uVNTR) polymorphism in the dopamine D4 receptor (DRD4) gene are reported to confer susceptibility to schizophrenia.</p> <p>Methods</p> <p>We recruited 934 patients with schizophrenia and 433 healthy individuals, and genotyped the locus of the TP53 codon 72 and DRD4 uVNTR polymorphisms by combining the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) with direct sequencing.</p> <p>Results</p> <p>No significant differences were found in the frequency of the genotype of the TP53 codon72 polymorphism between patients with schizophrenia and their controls. However, the long form alleles (≥ 5 repeats) of the DRD4 uVNTR polymorphism were more frequent in patients with schizophrenia than in controls (p = 0.001). Hence, this class of alleles might be a risk factor for enhanced vulnerability to schizophrenia (odds ratio = 3.189, 95% confidence interval = 1.535-6.622). In the logistic regression analysis, the long form variants of the DRD4 polymorphism did predict schizophrenia after the contributions of the age and gender of the subjects were included (p = 0.036, OR = 2.319), but the CC and GG genotypes of the codon 72 polymorphism of TP53 did not.</p> <p>Conclusions</p> <p>The long form variants of the uVNTR polymorphism in DRD4 were associated with schizophrenia, in a manner that was independent of the TP53 codon 72 polymorphism. In addition, given that the genetic effect of the TP53 codon 72 polymorphism on the risk of developing schizophrenia was very small, this polymorphism is unlikely to be associated with schizophrenia. The roles that other single nucleotide polymorphisms (SNPs) in the TP53 gene or in other apoptosis-related genes play in the synaptic dysfunction involved in the pathogenesis of schizophrenia should be investigated.</p> |
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| format | Article |
| id | doaj.art-dc28b1b288d646c981768cfc09793428 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-14T00:26:31Z |
| publishDate | 2009-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-dc28b1b288d646c981768cfc097934282022-12-21T23:25:02ZengBMCBMC Medical Genetics1471-23502009-12-0110114710.1186/1471-2350-10-147Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control studyKao Wei-TsungShu Bih-ChingLung For-WeyChen C NathanKu Yu-ChiTzeng Dong-Sheng<p>Abstract</p> <p>Background</p> <p>The tumour supressor gene TP53 is thought to be involved in neural apoptosis. The polymorphism at codon 72 in TP53 and the long form variants of the upstream variable number of tandem repeats (uVNTR) polymorphism in the dopamine D4 receptor (DRD4) gene are reported to confer susceptibility to schizophrenia.</p> <p>Methods</p> <p>We recruited 934 patients with schizophrenia and 433 healthy individuals, and genotyped the locus of the TP53 codon 72 and DRD4 uVNTR polymorphisms by combining the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) with direct sequencing.</p> <p>Results</p> <p>No significant differences were found in the frequency of the genotype of the TP53 codon72 polymorphism between patients with schizophrenia and their controls. However, the long form alleles (≥ 5 repeats) of the DRD4 uVNTR polymorphism were more frequent in patients with schizophrenia than in controls (p = 0.001). Hence, this class of alleles might be a risk factor for enhanced vulnerability to schizophrenia (odds ratio = 3.189, 95% confidence interval = 1.535-6.622). In the logistic regression analysis, the long form variants of the DRD4 polymorphism did predict schizophrenia after the contributions of the age and gender of the subjects were included (p = 0.036, OR = 2.319), but the CC and GG genotypes of the codon 72 polymorphism of TP53 did not.</p> <p>Conclusions</p> <p>The long form variants of the uVNTR polymorphism in DRD4 were associated with schizophrenia, in a manner that was independent of the TP53 codon 72 polymorphism. In addition, given that the genetic effect of the TP53 codon 72 polymorphism on the risk of developing schizophrenia was very small, this polymorphism is unlikely to be associated with schizophrenia. The roles that other single nucleotide polymorphisms (SNPs) in the TP53 gene or in other apoptosis-related genes play in the synaptic dysfunction involved in the pathogenesis of schizophrenia should be investigated.</p>http://www.biomedcentral.com/1471-2350/10/147 |
| spellingShingle | Kao Wei-Tsung Shu Bih-Ching Lung For-Wey Chen C Nathan Ku Yu-Chi Tzeng Dong-Sheng Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study BMC Medical Genetics |
| title | Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study |
| title_full | Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study |
| title_fullStr | Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study |
| title_full_unstemmed | Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study |
| title_short | Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study |
| title_sort | association of drd4 uvntr and tp53 codon 72 polymorphisms with schizophrenia a case control study |
| url | http://www.biomedcentral.com/1471-2350/10/147 |
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