常见的变异使精神分裂症的风险增加
Hreinn Stefansson1, Roel A Ophoff, Stacy Steinberg
1deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.
遗传因素影响精神分裂症风险,新的研究确定了与主要基因相容性复合体 (MHC),神经激素 (NRGN) 和转录因子4 (TCF4) 基因的联系.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 精神病学是一个精神病学.
背景情况:
- 精神分裂症是一种复杂的精神疾病,病因不明.
- 诊断传统上依赖于临床症状,因为缺乏确定的生物标志物.
- 全基因组关联研究 (GWAS) 正在揭示复杂的遗传基础,挑战经典疾病界限.
研究的目的:
- 为了确定与精神分裂症风险相关的特定遗传变异.
- 探索这些遗传关联所涉及的生物途径.
主要方法:
- 综合单核酸多态 (SNP) 数据来自多个大规模的全基因组扫描.
- 对统计学上最显著的关联信号进行了跟踪.
主要成果:
- 在染色体6p21.3-22.1.2.1.上的主要组织相容性复合体 (MHC) 区域内确定了显著的遗传关联.
- 在11q24.2.2.上发现了与神经干素 (NRGN) 基因上游标记物的关联.
- 在18q21.2.2.2上检测到与转录因子4 (TCF4) 基因的内突四个标记物的关联.
结论:
- 这些发现表明,通过MHC区域,免疫系统的组成部分有助于精神分裂症风险.
- 与NRGN和TCF4的关联表明大脑发育,记忆和认知的关键途径的参与.
更多相关视频
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
相关概念视频
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Psychological and Sociocultural Causes of Schizophrenia
Principles of Pharmacogenetics: Types of Genetic Variants
Comparing Copy Number Variations and SNPs
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%...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
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 the...
