ゲノム位置や生物学的経路に集まっている何百もの変異体が,人間の身長に影響を及ぼしています
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
まとめ
全ゲノム関連研究により,成人の身長に影響を与える数百の遺伝子変異が特定されました. これらの発見は,生物学的に重要な遺伝子や経路を明らかにし,複雑な人間の特徴や病気の研究を進めています.
科学分野:
- 人間の遺伝学 人間の遺伝学
- ゲノミクスゲノミクスとは
- 複雑な特徴の遺伝学
背景:
- 最も一般的なヒトの特徴と疾患は,多数の遺伝位置におけるDNA配列の変異によって影響を受ける多遺伝子遺伝を示しています.
- 全ゲノム関連 (GWA) 研究では,人間の特徴の600以上の変異種が特定されていますが,典型的には,フェノタイプの変異の小さな部分を説明します.
研究 の 目的:
- 大人の身長に影響を及ぼすかなりの数の遺伝的局所を特定する,古典的な多遺伝子特質.
- これらの遺伝子変異の生物学的経路と機能的影響を調査する.
主な方法:
- 183727人の全ゲノム関連データの分析.
- 大人の身長に関連した遺伝的位置を特定するための統計的方法.
- パスウェイの濃縮分析と変種機能の評価.
主要な成果:
- 少なくとも180のロシウムの何百もの遺伝的変異が,成人の身長に大きな影響を与えます.
- 特定された位置は,生物学的経路の遺伝子や,骨格の成長欠陥に関与する遺伝子のために豊かにされます.
- 関連する変種は,タンパク質構造と遺伝子発現の変化を含む機能的効果のために強化されます.
- これらの変異は,身長におけるフェノタイプの変化の約10%を説明する.
結論:
- GWAの研究は,生物学的に意味のある遺伝子と多遺伝子性特性の経路に関連する多数の位置を特定することができます.
- この発見は,一般的なヒト疾患の遺伝学的研究に重大な影響を及ぼします.
- 特定されたロキのさらなる探求は,追加の変異を明らかにし,特性の遺伝性の理解を向上させる可能性があります.
関連する概念動画
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%...


