用GTEx数据对人类特征的转录基因表达水平和环境变量进行表型差异分区,使用GTEx数据
Pastor Jullian Fabres1,2,3, S Hong Lee1,2,3
1Australian Centre for Precision Health, University of South Australia, Adelaide, South Australia, Australia.
Genetic epidemiology
|June 15, 2023
概括
遗传和环境因素显著影响人类的特征. 内脏脂肪组织中的基因表达解释了68%的体重指数 (BMI) 变异,突出了遗传学.
科学领域:
- 人类遗传学 人类遗传学
- 环境科学 环境科学
- 系统生物学 系统生物学
背景情况:
- 现型变异源于遗传构成和环境影响之间的复杂相互作用.
- 传统的全基因组关联研究通常只能解释复杂特征的表型变异的一小部分.
- 了解基因表达和环境因素的相互作用对于全面了解表型决定至关重要.
研究的目的:
- 用基因表达数据和环境变量来对人类特征进行表型差异分区.
- 调查转录和环境因素对身体质量指数 (BMI) 变化的贡献.
- 为了估计转录基因组与环境的相关性,这些相关性是人类特征的基础.
主要方法:
- 利用来自GTEx数据库的四个相关组织 (内脏脂肪,骨肌肉,血液) 的基因表达数据.
- 纳入的环境变量包括年龄,性别,祖先,吸烟和饮酒.
- 应用差异分区方法来量化遗传 (基因表达) 和环境因素的贡献.
主要成果:
- 内脏脂肪组织中的基因表达解释了BMI表型变异的相当大比例 (0.68).
- 环境因素 (年龄,性别,血统,吸烟,酒精) 对BMI产生了小但显著的影响 (0.005).
- 在内脏脂肪组织中,BMI的显著负转录组-环境相关性 (-0.54) 表明了对抗作用.
结论:
- 使用基因表达和环境数据,即使采用适度的样本大小,也可以有效地分割表型变异.
- 特定组织的基因表达,如内脏脂肪组织,在确定BMI方面发挥着主导作用.
- 这些发现强调了考虑转录和环境相互作用对于理解复杂特征的重要性.
相关概念视频
Gene-Environment Interactions
376
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...
376
Background and Environment Affect Phenotype
6.6K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.6K
Heritability
239
Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
239
Polygenic Traits
66.0K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
66.0K
Genetic Variation
332
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
332
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K


