常见的遗传变异有助于罕见的严重神经发育障碍的风险
Mari E K Niemi1, Hilary C Martin1, Daniel L Rice1
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Nature
|September 28, 2018
概括
常见的遗传变异显著影响严重神经发育障碍的风险和表现,即使是那些通常被认为是单一的. 这些发现凸显了罕见和常见的疾病遗传因素之间的复杂相互作用.
科学领域:
- 人类遗传学
- 神经发育障碍
- 基因组学
背景情况:
- 数以千计的罕见疾病源于单一有害的基因变异.
- 患有相同遗传缺陷的患者的临床表现各不相同,一些疾病变体的携带者仍然不受影响.
- 了解影响疾病变异性的因素对于罕见的遗传疾病至关重要.
研究的目的:
- 研究常见遗传变异在严重神经发育障碍中的作用.
- 确定常见变异是否会影响典型单一性疾病的风险和临床表现.
主要方法:
- 研究了6987名患有严重神经发育障碍的儿童.
- 使用全基因组关联研究分析了常见遗传变异对疾病风险的贡献.
- 在728个三人组 (孩子加上父母) 的独立样本中重复发现.
主要成果:
- 共同的遗传变异占神经发育障碍风险变异的7. 7%.
- 这种常见变异的负担显著过度地从父母传给受影响的孩子.
- 常见变异风险与低教育程度,智力下降和精神分裂症的遗传倾向相关.
结论:
- 共同的遗传变异在神经发育障碍的风险和表型表现中起着重要作用,无论单一的诊断如何.
- 在一般人群中影响特征的相同常见变体也会影响单一性疾病的个体.
- 这些发现揭示了神经发育障碍的复杂遗传结构,包括罕见和常见的变异.
更多相关视频
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
14.4K
07:05Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
Published on: September 27, 2024
992
相关概念视频
Common Respiratory Disorders
1.4K
Respiratory disorders, a prevalent health concern globally, are generally divided into two primary categories: upper and lower respiratory tract disorders. The categorization is based on the area of the respiratory system they affect.
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
1.4K
Common Ion Effect
46.8K
Compared with pure water, the solubility of an ionic compound is less in aqueous solutions containing a common ion (one also produced by dissolution of the ionic compound). This is an example of a phenomenon known as the common ion effect, which is a consequence of the law of mass action that may be explained using Le Châtelier’s principle. Consider the dissolution of silver iodide:
46.8K
Histone Variants at the Centromere
5.1K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.1K
Genetics of Speciation
21.5K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.5K
Binet's Contribution to Measures of Intelligence
1.7K
Alfred Binet, along with his student Théophile Simon, was tasked by the French Ministry of Education in 1904 to create a method for identifying students who struggled to learn through conventional classroom instruction. This initiative aimed to address overcrowding by placing such students in specialized schools. Binet and Simon developed an intelligence test comprising 30 tasks, ranging from simple commands, like touching one's nose or ear, to more complex tasks, such as drawing...
1.7K
Relative Risk
2.2K
Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
2.2K
