帕金 (PRKN) 副本数变异与精神分裂症和自闭症谱系障碍之间的关联:一个病例控制研究
Tzuyao Lo1, Itaru Kushima1,2, Hiroki Kimura1
1Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Neuropsychopharmacology reports
|November 2, 2023
概括
帕金 (PRKN) 基因中的单样基因复制数变异 (CNVs) 与精神分裂症 (SCZ) 或自闭症谱系障碍 (ASD) 的风险增加无关. 需要进一步研究PRKN中的双性CNV和这些疾病.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 精神病学是一个精神病学.
背景情况:
- 副本数变异 (CNVs) 是遗传变异的重要来源.
- 帕金森 (PRKN) 基因突变与帕金森病有关,但它们在精神分裂症 (SCZ) 和自闭症谱系障碍 (ASD) 中的作用不明.
研究的目的:
- 调查PRKN CNV与发展SCZ和ASD的风险之间的关联.
- 在大型病例对照队列中分析PRKN中可能致病性CNV (LP-CNV) 的频率和影响.
主要方法:
- 使用了数组比较基因组杂交 (aCGH).
- 总共分析了3111个SCZ病例,1236个ASD病例和2713个对照病例.
- 在PRKN中确定了LP-CNV,并检查了它们与SCZ和ASD的关联.
主要成果:
- 在PRKN中发现LP-CNVs的单基载体在1.02%的研究人群中.
- 在单基因PRKNLP-CNV与SCZ (p=0.29) 或ASD (p=0.72) 之间没有观察到统计学意义上的关联.
- 在PRKN中发现了一例SCZ与早期发病的帕金森病携带双基致病性CNV的病例,这表明双基变异可能发挥作用.
结论:
- 在PRKN基因中的单基因CNV似乎不会给SCZ或ASD带来显著的风险.
- 这些发现突显出需要进一步研究双性PRKN CNVs在SCZ和ASD病因学中的作用.
相关概念视频
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Single Nucleotide Polymorphisms-SNPs
15.2K
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,...
15.2K
Biological Causes of Schizophrenia
61
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.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
61
Genome-wide Association Studies-GWAS
13.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.5K
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
690
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.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
690
Autism Spectrum Disorder
102
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
102


