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Related Concept Videos

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Positive Symptoms Schizophrenia: Hallucinations and Delusions01:26

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Schizophrenia is a complex psychiatric disorder characterized by a range of symptoms that significantly impact cognition, behavior, and emotional regulation. Among these, the positive symptoms stand out as they involve the addition or exaggeration of normal mental functions, deviating markedly from typical behavior and perception. Hallucinations and delusions are prominent positive symptoms, each profoundly affecting the individual's experience of reality.
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Hallucinations in...
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Positive Symptoms of Schizophrenia: Hallucinations and Delusions01:30

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Schizophrenia is a complex mental health disorder that can manifest with various positive symptoms, including thought, movement, and behavior disorders. These symptoms significantly disrupt cognitive and motor functions, leading to profound effects on an individual's ability to engage with the world.
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Schizophrenia01:17

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Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those...
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Updated: Jun 26, 2025

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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CD73 polymorphisms are associated with schizophrenia.

He-Xia Peng1,2, Li-Li Zhang1,2, Dan Jiang1,2

  • 1School of Acupuncture and Tuina, Chengdu University of Traditional Medicine, Chengdu, 610075, China.

Purinergic Signalling
|May 17, 2024
PubMed
Summary
This summary is machine-generated.

Genetic variations in the ecto-5'-nucleotidase/CD73 enzyme are linked to schizophrenia risk. Specific CD73 gene variants and their association with disease susceptibility and antipsychotic treatment response were identified.

Keywords:
CD73Ecto-5’-nucleotidaseSchizophreniaSingle-nucleotide polymorphism

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Area of Science:

  • Neuroscience
  • Genetics
  • Pharmacology

Background:

  • Ecto-5'-nucleotidase (CD73) regulates extracellular adenosine, impacting adenosine homeostasis.
  • Purine metabolism and CD73 activity alterations are implicated in schizophrenia susceptibility.
  • The specific role of CD73 genetic variations in schizophrenia remains unclear.

Purpose of the Study:

  • To investigate the association between CD73 genetic variations and schizophrenia risk.
  • To explore the influence of these variations on disease susceptibility in different genders.
  • To examine the relationship between CD73 genotypes, family history, and antipsychotic medication response.

Main Methods:

  • Genotyping analysis of CD73 single nucleotide polymorphisms (SNPs) including rs3734442, rs4431401, rs9444348, rs6922, rs2229523, and rs2065114.
  • Case-control study design comparing patients with schizophrenia and healthy controls.
  • Statistical analysis including odds ratios, confidence intervals, and p-values to assess genetic associations.
  • Subgroup analyses based on gender, family history, and antipsychotic treatment (clozapine, risperidone, sulpiride).

Main Results:

  • The rs3734442 allele and rs4431401 heterozygote showed significant association with schizophrenia risk.
  • Significant associations for rs3734442 and rs4431401 were observed in male patients.
  • The rs9444348 allele was significantly associated with familial schizophrenia susceptibility.
  • CD73 variants (rs6922, rs2229523, rs2065114) showed higher frequency in patients treated with clozapine versus risperidone.
  • The GG genotype of rs9444348 was linked to clozapine use over sulpiride.

Conclusions:

  • Genetic variations in CD73 are significantly associated with schizophrenia risk.
  • Specific CD73 SNPs may influence disease susceptibility, particularly in males.
  • CD73 genotypes could potentially predict response to certain antipsychotic medications, suggesting therapeutic implications.