Dataset Information

An association study of ADSS gene polymorphisms with schizophrenia.

ABSTRACT: BACKGROUND: Adenylosuccinate synthase (ADSS) catalyzes the first committed step of AMP synthesis. It was suggested that the blood-derived RNA of ADSS was down-regulated in schizophrenia (SZ) and one of the eight putative biomarker genes to discriminate SZ from normal controls. However, it remains unclear whether the reduction of ADSS RNA is due to the polymorphisms of the gene or not. METHODS: We attempted to examine the association of ADSS gene with schizophrenia in a Chinese population of 480 schizophrenics and 502 normal controls. Genotyping was performed by the Sequenom platform. RESULTS: The 6 marker SNPs (rs3102460, rs3127459, rs3127460, rs3127465, rs3006001, and rs3003211) were genotyped. The frequencies of alleles, genotypes, and haplotypes were tested between cases and controls. There was no significant difference of genotypic, allelic, or haplotypic distributions of the 6 SNPs between the two groups. CONCLUSION: Our data did not support ADSS gene as a susceptibility gene for SZ in Chinese Han population. Large sample size study is needed to validate or replicate our association study, especially from other ethnic populations.

SUBMITTER: Zhang F

PROVIDER: S-EPMC2553416 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

An association study of ADSS gene polymorphisms with schizophrenia.

Zhang Fuquan F Sham Pak C PC Fan Hua H Xu Yong Y Huang Xuezhu X So Honcheong H Song Yuqing Y Liu Pozi P

Behavioral and brain functions : BBF 20080824

<h4>Background</h4>Adenylosuccinate synthase (ADSS) catalyzes the first committed step of AMP synthesis. It was suggested that the blood-derived RNA of ADSS was down-regulated in schizophrenia (SZ) and one of the eight putative biomarker genes to discriminate SZ from normal controls. However, it remains unclear whether the reduction of ADSS RNA is due to the polymorphisms of the gene or not.<h4>Methods</h4>We attempted to examine the association of ADSS gene with schizophrenia in a Chinese popul ...[more]

PMID: 18721483

Similar Datasets

Project description:Schizophrenia (SZ) is a multifactorial and neurodegenerative disorder that results from the interaction between genetic and environmental factors. Notably, hundreds of single nucleotide polymorphisms (SNPs) are associated with the susceptibility to SZ. Vitamin D (VD) plays an essential role in regulating several genes important for maintaining brain function and health. To the best of the authors' knowledge, no studies have yet been conducted on the association between the VD pathway and patients with SZ. Therefore, the present study aimed to assess the potential association between eight SNPs in genes related to the VD pathway, including CYP2R1, CYP27B1, CYP24A1 and VDR among patients with SZ. A case-control study was conducted, involving a total of 400 blood samples drawn from 200 patients and 200 healthy controls. Genomic DNA was extracted and variants were genotyped using the tetra-amplification refractory mutation system-polymerase chain reaction method. The present study revealed statistically significant differences between patients with SZ and controls regarding the genotypes and allele distributions of three SNPs [CYP2R1 (rs10741657), CYP27B1 (rs10877012) and CYP24A1 (rs6013897) (P<0.0001)]. The AA genotype of rs10741657 was identified to be associated with SZ (P<0.0001) and the frequency of the A allele was higher in patients with SZ (P<0.0001) compared with the control group. Similarly, the TT genotype of rs10877012 was revealed to be associated with SZ (P<0.0001) and the T allele was more frequent in patients with SZ (P<0.0001) than in the control group. Moreover, the AA genotype of rs6013897 was revealed to be associated with SZ (P<0.0001), although no significant difference was detected between the two groups regarding the A allele (P=0.055). VDR (rs2228570, rs1544410, rs731236 and rs7975232) and CYP27B1 (rs4646536) gene polymorphisms did not exhibit a significant association with SZ. While the studied SNPs revealed promising discriminatory capacity between patients with SZ and controls, the rs10741657 SNP exhibited the most optimal area under the curve value at 0.615. A logistic model was applied considering only the significant SNPs and VD levels, which revealed that rs6013897 (T/A) and VD may have protective effects (0.267, P<0.001; 0.888, P<0.001, respectively). Moreover, a low serum VD level was highly prevalent in patients with SZ compared with the controls. Based on this finding, an association between serum 25(OH)D and SZ could be demonstrated. The present study revealed that CYP2R1 (rs10741657), CYP27B1 (rs10877012) and CYP24A1 (rs6013897) gene SNPs may be associated with SZ susceptibility.

Project description:PurposeDRD2 gene is considered one of the most important candidate genes for the schizophrenia (SCZ) development due to its role in dopamine signaling and no genetic association study has been conducted yet on the Bangladeshi SCZ patients. The objective of the present study was to investigate the association of DRD2 genetic polymorphisms (rs4648317, rs4936270, and rs7131056) with SCZ in the Bangladeshi population.Patients and methodsThis case-control study consisted of 101 SCZ patients and 101 controls. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.ResultsThe average ages were 22.15 and 22.09 years in patients and controls, respectively (p > 0.05). CT genotype of rs4936270 showed a significantly higher risk for the development of SCZ compared to CC genotype (OR = 2.0, p = 0.023), whereas no association was found for TT genotype. For the dominant model and T allele, rs4936270 showed a higher risk for the development of SCZ (OR = 2.01, p = 0.020; OR = 1.76, p = 0.021, respectively), while the recessive model had no association with SCZ. A statistically significant (OR = 2.70, p = 0.036) higher risk was found for the AA genotype, but no association was found for GA genotype of rs4648317 SNP compared to GG genotype. In case of dominant and recessive models, rs4648317 showed no association with SCZ. 'A' allele of rs4648317 SNP was found to be significantly associated with the elevated risk of SCZ (OR = 1.50, p = 0.044). No association with SCZ of rs7131056 SNP was found for AC, CC genotypes, dominant, recessive, and allele models. Furthermore, from the haplotyping analysis, we found that CAA and TAA haplotypes of rs4936270, rs7131056 and rs4648317 SNPs are associated with SCZ (χ2 = 8.26, p = 0.004; χ2 = 5.31, p = 0.021, respectively). After Bonferroni correction, the association of SCZ did not withstand with any genotype, allele and haplotype (p < 0.017) except CAA haplotype.ConclusionOur results suggest that DRD2 gene polymorphisms may be associated with the susceptibility of SCZ in the young Bangladeshi population.

Dataset Information

An association study of ADSS gene polymorphisms with schizophrenia.

Publications

An association study of ADSS gene polymorphisms with schizophrenia.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets