遗传决定性耳与神经成像特征的因果关联:来自孟德尔随机化研究的证据
Jing Sun1, Xinghao Wang1, Jia Li1
1Department of Radiology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Ear and hearing
|October 6, 2023
概括
对耳的遗传敏感性与大脑体积的改变有关,包括白质量增加和大脑总体体积增加. 皮层区域的特定灰质变化也可能影响着耳风险,这表明了潜在的神经解剖学机制.
科学领域:
- 神经成像是一种神经成像.
- 遗传学 遗传学 是一个
- 听觉神经科学 听觉神经科学
背景情况:
- 耳,一个幻听感知,经常使用神经成像来研究,但像反向因果关系和混因素这样的偏见掩盖了因果关系.
- 耳与中枢神经系统结构变化的关系尚不清楚,需要强大的因果推断方法.
研究的目的:
- 使用孟德尔随机化研究耳声和神经可塑性改变之间的因果关系.
- 探索耳与全球大脑和子大脑神经解剖学特征的因果关系.
主要方法:
- 利用了来自英国生物银行的大型全基因组协会研究 (GWAS) 的耳 (n=117,882) 的摘要级数据.
- 采用双向孟德尔随机化分析与全球大脑组织和亚大脑灰质体积特征的GWAS总结统计 (n=高达33.224).
主要成果:
- 对耳的遗传敏感性与增加的白质体积 (OR=2.361) 和总大脑体积 (OR=2.391) 有因果关系.
- 发现与脑脊髓液体体积 (OR=0.362) 有相反的因果关系.
- 较小的灰质体积在左侧的赫斯克环和右侧岛皮质中,以及在左侧的副海马环中较大的体积,与增加的耳风险有关.
结论:
- 对耳的遗传倾向因果关系影响白质和大脑总体.
- 特定皮质灰质体积的变化可能会导致耳风险,需要进一步调查.
- 这些发现提供了基因证据,支持耳病理生理学中的神经解剖学异常.
相关概念视频
Gene-Environment Interactions
337
Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
337
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
Behavioral Genetics and Its Designs
384
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
384
Incomplete Dominance
22.7K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.7K
Human Genetics
590
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
590
Criteria for Causality: Bradford Hill Criteria - II
340
The Bradford Hill criteria serve as guidelines for establishing causative links in epidemiological research. Beyond Strength, Consistency, Specificity, and Temporality, key criteria also include Biological Gradient, Plausibility, Coherence, Experiment, and Analogy. These principles assist scientists in assessing the likelihood of causation in complex biological contexts. Below is a summary of these concepts:
340


