与人类身高相关的常见遗传变异的和地图
Loïc Yengo1, Sailaja Vedantam2,3, Eirini Marouli4
1Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. l.yengo@imb.uq.edu.au.
Nature
|October 12, 2022
概括
全基因组关联研究确定了1211个与人类身高相关的独立单核酸多态 (SNP),解释了大多数遗传性. 这些SNP聚集在特定的基因组区域,在祖先之间具有不同的预测能力.
科学领域:
- 人类遗传学
- 基因组学
- 统计遗传学
背景情况:
- 常见的单核酸多态 (SNP) 显著影响人类身高的变化.
- 识别特定的高度相关变异需要大规模的全基因组关联研究 (GWAS).
研究的目的:
- 识别与人类身高相关的独立SNP并绘制它们的基因组位置.
- 评估这些SNP在不同祖先之间解释的遗传性.
- 研究SNP密度,基因丰富和生物通路之间的关系.
主要方法:
- 在540万个不同血统的人身上进行了GWAS.
- 确定了1211个与身高相关的独立SNP.
- 分析了SNP聚类,基因组细分特征和基因丰富.
- 在不同祖先的样本外数据集中评估预测准确性.
主要成果:
- 12,111个独立的SNP几乎占据了所有基于SNP的身高遗传.
- 这些SNP聚集在7209个基因组段中,
- 基于SNP的身高变化预测在欧洲血统中很高 (40-45%),但在其他血统中较低 (10-24%).
- 非欧洲祖先的预测精度降低是由于链接不平衡和等位基因频率差异.
结论:
- 建立了与身高相关的常见变体的综合地图,主要用于欧洲血统.
- 比因果变异更小的样本大小可以检测出生物途径.
- 为了在非欧洲祖先中实现与身高相关的基因组和,需要进一步的研究.
更多相关视频
08:27Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
3.8K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.1K
相关概念视频
Polygenic Traits
66.3K
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...
66.3K
Genome-wide Association Studies-GWAS
14.0K
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...
14.0K
Human Genetics
685
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...
685
Nature and Nurture
20.6K
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
20.6K
Incomplete Dominance
25.3K
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.
25.3K
Heritability
277
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"...
277
