Schizophreniais a severe brain disease seen all over the world. There are studies showing that activator of transcription and developmental regulator AUTS2 (AUTS2) gene is involved in the predisposition to schizophrenia. In this study, we aimed to analyze the correlation between rs6943555 variant of AUTS2 gene and schizophrenia in a Turkish population. This study include 100 schizophrenia patients and 152 unrelated healthy controls. The AUTS2 genotypes were determined by the polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) tests. Chi-square and Anova tests were used for statistical analyses. According to results, although the A allele frequency was higher in schizophrenia patients, we didn't detect statistically significant correlation between schizophrenia and the AUTS2 gene rs6943555 variant (p = 0.057). However after adjusting for gender, significant effects of genotype and allele were detected among males (p = 0.039 and p = 0.049, respectively). Also we observed a statistically significant correlation between HDL cholesterol values of patients and genotypes of rs6943555 variant (p = 0.016). As a result, rs6943555 variant of AUTS2 gene might affect the predisposition to schizophrenia especially in male patients.
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http://dx.doi.org/10.1016/j.gene.2020.144913 | DOI Listing |
EMBO J
January 2025
Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, 187-8502, Japan.
AUTS2 syndrome is characterized by intellectual disability and microcephaly, and is often associated with autism spectrum disorder, but the underlying mechanisms, particularly concerning microcephaly, remain incompletely understood. Here, we analyze mice mutated for the transcriptional regulator AUTS2, which recapitulate microcephaly. Their brains exhibit reduced division of intermediate progenitor cells (IPCs), leading to fewer neurons and decreased thickness in the upper-layer cortex.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
The Affiliated Hospital of Yunnan University (The Second People's Hospital of Yunnan Province), Kunming, Yunnan Province, China.
Purpose: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing.
Methods: In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals.
Sci Rep
August 2024
Department of Biochemistry and Molecular Biology, Penn State Hershey Cancer Institute, The Stem Cell and Regenerative Biology Program, Penn State College of Medicine, Hershey, USA.
Individuals with the Autism Susceptibility Candidate 2 (AUTS2) gene disruptions exhibit symptoms such as intellectual disability, microcephaly, growth retardation, and distinct skeletal and facial differences. The role of AUTS2 in neurodevelopment has been investigated using animal and embryonic stem cell models. However, the precise molecular mechanisms of how AUTS2 influences neurodevelopment, particularly in humans, are not thoroughly understood.
View Article and Find Full Text PDFGenes (Basel)
June 2024
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.
J Adv Res
July 2024
Université Catholique de Louvain, Institute of Neuroscience, Developmental Neurobiology, Avenue Mounier 73, Box B1.73.16, Brussels, Belgium; Hamad Bin Khalifa University, College of Health and Life Sciences, Doha, Qatar. Electronic address:
Introduction: The AUTS2 gene is associated with various neurodevelopmental and psychiatric disorders and has been suggested to play a role in acquiring human-specific traits. Functional analyses of Auts2 knockout mice have focused on postmitotic neurons, and the reported phenotypes do not faithfully recapitulate the whole spectrum of AUTS2-related human diseases.
Objective: The objective of the study is to assess the role of AUTS2 in the biology of neural progenitor cells, cortical neurogenesis and expansion; and understand how its deregulation leads to neurological disorders.
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