| 1 | Am. J. Med. Genet. 2002 Apr 114: 304-9 |
|---|---|
| PMID | 11920853 |
| Title | Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia. |
| Abstract | Based on the neurodevelopmental hypothesis in the etiology ofschizophrenia, neurotrophic factors may be involved in the pathogenesis of the illness. We searched for polymorphisms in the promoter region of the neurotrophin-3 (NTF3) gene by using denaturing high performance liquid chromatography (DHPLC). Six single nucleotide polymorphisms (SNPs) were found. When these polymorphisms were examined for association withschizophrenia啊,一个弱显著差异bserved in the genotype distribution of the G/- 3004/A polymorphism between 184schizophrenics and 185 controls (P < 0.05), although no statistically significant association was detected in a family-based sample of 50 trios (schizophrenics and their parents). With respect to the other polymorphisms, there was no significant association withschizophrenia. The G/- 3004/A polymorphism was in linkage disequilibrium with the CA repeat polymorphism in the first intron of theNTF3gene. When haplotype-based analysis was performed, an increased frequency of the haplotype containing the G(- 3004) and the "A3" ([CA]23) alleles was observed for theschizophrenics compared to controls. Our results suggest that the G(- 3004)-A3 haplotype has a modest effect of giving susceptibility toschizophrenia. |
| SCZ Keywords | schizophrenia, schizophrenics |
| 2 | Am. J. Med. Genet. 2002 Apr 114: 304-9 |
| PMID | 11920853 |
| Title | Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia. |
| Abstract | Based on the neurodevelopmental hypothesis in the etiology ofschizophrenia, neurotrophic factors may be involved in the pathogenesis of the illness. We searched for polymorphisms in the promoter region of the neurotrophin-3 (NTF3) gene by using denaturing high performance liquid chromatography (DHPLC). Six single nucleotide polymorphisms (SNPs) were found. When these polymorphisms were examined for association withschizophrenia啊,一个弱显著差异bserved in the genotype distribution of the G/- 3004/A polymorphism between 184schizophrenics and 185 controls (P < 0.05), although no statistically significant association was detected in a family-based sample of 50 trios (schizophrenics and their parents). With respect to the other polymorphisms, there was no significant association withschizophrenia. The G/- 3004/A polymorphism was in linkage disequilibrium with the CA repeat polymorphism in the first intron of theNTF3gene. When haplotype-based analysis was performed, an increased frequency of the haplotype containing the G(- 3004) and the "A3" ([CA]23) alleles was observed for theschizophrenics compared to controls. Our results suggest that the G(- 3004)-A3 haplotype has a modest effect of giving susceptibility toschizophrenia. |
| SCZ Keywords | schizophrenia, schizophrenics |
| 3 | Neuropsychobiology 2004 -1 50: 206-10 |
| PMID | 15365216 |
| Title | Analysis of enhancer activity of a dinucleotide repeat polymorphism in the neurotrophin-3 gene and its association with bipolar disorder. |
| Abstract | Growing evidence has implicated the possible involvement of neurotrophins in the pathogenesis of functional psychoses such asschizophreniaand bipolar disorder. Previous studies reported a significant association of a dinucleotide repeat polymorphism of the neurotrophin-3 (NTF3) gene withschizophrenia. The aims of the present study were to examine whether this polymorphism is associated with bipolar disorder and whether the polymorphic region has an enhancer/silencer effect on transcriptional activity in an allele-dependent manner. In an association analysis between the polymorphism and bipolar disorder in a Japanese sample of 88 patients and 98 controls matched for age, sex, and ethnicity, the distribution of alleles did not differ significantly between the two groups. pGL3-promoter luciferase reporter vectors containing the polymorphic region increased luciferase activity relative to empty pGL3-promoter vector in HeLa, IMR-32 (neuroblastoma) and Hs683 (glioma) cell lines; however, no significant difference was detected between alleles for either cell line. Our results suggest that the examined polymorphism has no major role in giving susceptibility to bipolar disorder. Although the polymorphic region may have an enhancer-like effect on transcriptional activity, we obtained no evidence for allele-dependent differential effects. |
| SCZ Keywords | schizophrenia, schizophrenics |