在基因组位置和生物途径中聚集的数百种变异会影响人类的身高
Hana Lango Allen1, Karol Estrada, Guillaume Lettre
1Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK.
Nature
|October 1, 2010
概括
全基因组关联研究发现了数百种影响成年人身高的遗传变异. 这些发现揭示了生物学上相关的基因和途径,推动了对复杂的人类特征和疾病的研究.
科学领域:
- 人类遗传学 人类遗传学
- 基因组学就是基因组学.
- 复杂的特征遗传学复杂的特征遗传学
背景情况:
- 大多数常见的人类特征和疾病都表现出多基因遗传,受众基因位置的DNA序列变异的影响.
- 全基因组关联 (GWA) 研究已经确定了超过600种人类特征的变异,但通常解释了小部分的表型变异.
研究的目的:
- 为了确定大量影响成年人身高的遗传位置,一个经典的多基因特征.
- 探索这些遗传变异的生物途径和功能影响.
主要方法:
- 分析了来自183727个个体的全基因组关联数据.
- 识别与成年人身高相关的遗传位置的统计方法.
- 路径丰富分析和变体功能的评估.
主要成果:
- 至少180个位点中的数百个遗传变异显著影响成年人身高.
- 识别的基因位点被丰富为生物通路中的基因和参与骨生长缺陷的基因.
- 相关变异被丰富以产生功能性影响,包括蛋白质结构和基因表达的改变.
- 这些变异解释了大约10%的身高的表型变化.
结论:
- GWA研究可以确定许多与生物学上有意义的基因相关的基因位置和多基因特征的途径.
- 这些发现对人类常见疾病的遗传研究有重大影响.
- 对已识别的位点进行进一步的探索可能会揭示额外的变异,并提高对特征遗传性的理解.
相关概念视频
Polygenic Traits
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...
Polygenic Traits
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...
Nature and Nurture
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, such as differences...
Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Human Genetics
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...
Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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%...
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%...


