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Genetic variation in the 3'-untranslated region of PAK1 influences schizophrenia susceptibility.

ABSTRACT: The present study aimed to investigate the association of two polymorphisms (rs2844337 and rs11237200) in the P21 protein (cell division control protein 42/Rac)-activated kinase 1 gene with susceptibility to schizophrenia (SCZ) in Chinese Zhuang and Chinese Han populations. A total of 700 patients with SCZ and 700 healthy controls were recruited. Rs2844337 and rs11237200 polymorphisms were genotyped using Sequenom technology. A total of 591 patients completed the Positive and Negative Syndrome Scale (PANSS) assessment. Data were statistically analyzed using PLINK version 1.07 and SPSS version 17.0. In the Chinese Han population, the genotypic (P=0.038) and allelic (P=0.033) frequencies of the 3'-untranslated region (UTR) genetic variation of rs2844337 in patients were significantly decreased compared to that in controls; these frequencies were significantly associated with SCZ susceptibility in the additive model (Padj=0.032) and in the recessive model (Padj=0.031). Moreover, the TG haplotype constructed by rs2844337 and rs11237200 polymorphisms remained significantly associated with SCZ risk following adjustment for gender and age and applying a Bonferroni correction in the Chinese Han population (Padj=0.003, PBC=0.009). The adjacent 5'-UTR genetic variation of rs11237200 was significantly associated with the total score (Padj=0.006), positive scale score (Padj=0.014) and general psychopathology scale scores (Padj=0.009) in the recessive model of the Chinese Han population. However, these polymorphisms were not significantly associated with SCZ susceptibility or the PANSS scores in the Chinese Zhuang population. In conclusion, variations in the PAK1 gene influenced the susceptibility and severity of the clinical symptoms of SCZ in the Chinese Han population investigated in the present study.

SUBMITTER: Jiang J

PROVIDER: S-EPMC5403403 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Genetic variation in the 3'-untranslated region of <i>PAK1</i> influences schizophrenia susceptibility.

Jiang Juan J Long Jianxiong J Ling Weijun W Huang Guifeng G Su Li L

Experimental and therapeutic medicine 20170112 3

The present study aimed to investigate the association of two polymorphisms (rs2844337 and rs11237200) in the P21 protein (cell division control protein 42/Rac)-activated kinase 1 gene with susceptibility to schizophrenia (SCZ) in Chinese Zhuang and Chinese Han populations. A total of 700 patients with SCZ and 700 healthy controls were recruited. Rs2844337 and rs11237200 polymorphisms were genotyped using Sequenom technology. A total of 591 patients completed the Positive and Negative Syndrome S ...[more]

PMID: 28450949

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Project description:BACKGROUND: Dengue, a mosquito-borne viral infection caused by one of the four dengue virus (DENV) serotypes (DENV-1 to 4), replicate alternately on the mosquito vector and human host and are responsible for infections throughout tropical and subtropical regions of the world. In Brazil, the disease has become a major public health problem and the introduction of DENV-3 in 2000 in Rio de Janeiro (RJ) was associated with severe dengue epidemics. The potential emergence of strains associated with severe disease highlights the need for the surveillance of DENV in human host and vectors. METHODS: Aiming to contribute for DENV phylogenetic and vector-virus-human host studies, we sequenced the entire genome of one DENV-3 isolated from naturally infected Aedes aegypti from RJ in 2001 and characterized the 3' UTR from strains isolated from mosquitoes and humans. Mosquitoes were pooled and submitted to virus isolation in Ae. albopictus C6/36 cells and the infecting serotype was identified by immunofluorescence using type-specific monoclonal antibody. Sequence analysis was performed using BioEdit software, the multiple alignments were performed using CLUSTAL W and the phylogenetic analysis by MEGA 5, using the Neighbor-joining method. Secondary structure prediction was performed by using the MFOLD program. RESULTS: Exclusive substitutions and a substitution leading to a stop codon on the NS5 gene were observed in the DENV-3 isolated from a naturally infected Ae. aegypti and fully sequenced. As an 8- nucleotides deletion was observed within the 11- nucleotides (nts) insertion on the variable region (VR) from the 3'UTR in this isolate, we further sequenced other DENV-3 from both mosquitoes and humans. The majority of DENV-3 from RJ analyzed were characterized by the 11-nts insertion in the VR of the 3'UTR, despite the observation of strains carrying the 8-nts deletion. The latter presented similar secondary structures, however not all strains presenting the 11-nts insertion were similar in the predicted secondary structure. CONCLUSIONS: The phylogeny based on the analysis of the complete genome and 3'UTR characterized the DENV-3 isolated from both vector and human host as belonging to Genotype III (GIII), despite the differences observed on the 3' UTR. Further studies are needed to address the role of those mutations in the transmission of the different viral populations and vector competence.

Dataset Information

Genetic variation in the 3'-untranslated region of PAK1 influences schizophrenia susceptibility.

Publications

Genetic variation in the 3'-untranslated region of <i>PAK1</i> influences schizophrenia susceptibility.

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