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- W4386988670 abstract "Schizophrenia is a complex and chronic neuropsychiatric disorder. Recent genome-wide association studies have identified several at risk genetic variants, including two single nucleotide polymorphisms, namely the rs10503253 and the rs1270942 respectively located in the CSMD1 and the CFB loci. The present case-control study was designed to assess potential associations between the two variants and the risk of developing schizophrenia and disease severity. Further we demonstrate the relationship between these variants and clinical characteristics in a population-group from Tunisia. In total, 216 patients diagnosed with schizophrenia along with176 healthy controls were included in this case–control study. The molecular analysis of the two polymorphisms was performed using tetra the Primer Amplification Refractory Mutation System–Polymerase Chain method. The statistical analysis was done using Compare V2.1 software, and correlations between genetic results and clinical characteristics were examined by Kruskal-Wallis testing. The frequency of the rs10503253A allele was found significantly higher among patients with schizophrenia as compared to healthy controls and associated with high negative PANSS scores. While no association was found concerning the implication of the rs1270942 variant in schizophrenia risk, a positive correlation with high positive PANSS scores was further observed. The present finding confirms the previously reported association between the Cub and Sushi multiple Domain 1 rs10503253A allele and the risk to develop schizophrenia and identified the rs1270942 variant as a potential disease risk modifier. Such observations may be important for the definition of the susceptible immunogenetic background in North African individuals at risk to develop mental disorders. La schizophrénie est une maladie neuropsychiatrique complexe et chronique. De récentes études d’association pan génomique ont identifié plusieurs variants génétiques impliqués dans le risque de développer la pathologie. Parmi eux, deux polymorphismes localisés dans les gènes CSMD1 et CFB (rs10503253 et rs1270942 respectivement). L’objectif de cette étude cas-témoins a été d’étudier l’association entre ces variants avec le risque de développer une schizophrénie et une forme sévère. Ainsi que l’étude de la relation entre ces variantes et les caractéristiques cliniques des patients en Tunisie. Une cohorte composée de 216 patients schizophrènes et de 176 témoins sains a été incluse dans cette étude cas-témoins. L’analyse génétique du rs10503253 et du rs1270942 a été réalisée à l’aide de la méthode tetra Primer Amplification Refractory Mutation System–Polymerase Chain method. La comparaison des fréquences génotypiques et alléliques entre les patients et les témoins sains a été réalisée à l’aide d’un logiciel Compare Excel files V 2.1. La corrélation entre les résultats génétiques et les caractéristiques cliniques a été examinée à l’aide du logiciel R en utilisant le test de Kruskal-Wallis. La fréquence de l’allèle A du rs10503253 a été retrouvée significativement plus élevé chez les patients schizophrènes en comparaison aux témoins sains. En outre, une association significative a été observée entre ce polymorphisme et des scores élevés de PANSS négatif. Cependant, les fréquences alléliques et génotypiques du rs1270942 ne montrent aucune association significative entre les patients et les témoins. Néanmoins, une corrélation entre cette variante et des élevées de PANSS positif a été identifiée. Nos résultats confirment l’association de l’allèle A du rs10503253 du gène CSMD1 avec le risque de développer une schizophrénie cliniquement sévère. Le rs1270942 du gène CFB apparaît lui comme un facteur génétique influençant la sévérité de la pathologie." @default.
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- W4386988670 date "2023-09-01" @default.
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- W4386988670 title "CSMD1 rs10503253 increases schizophrenia risk in a Tunisian population-group" @default.
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- W4386988670 doi "https://doi.org/10.1016/j.encep.2023.08.002" @default.
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