多発性硬化症 の 遺伝 的 リスク が 高い の は 草原 の 牧民 集団 で 明らか に なっ た
William Barrie1,2, Yaoling Yang3,4, Evan K Irving-Pease5
1Department of Zoology, University of Cambridge, Cambridge, UK.
Nature
|January 10, 2024
まとめ
多発性硬化症 (MS) の遺伝的リスクは,約5,000年前にヤムナヤの移住を通じてヨーロッパに導入された,ポントの草原の牧民から発生しました. 関連免疫遺伝子の変異は環境の変化により肯定的に選択された.
科学分野:
- 遺伝学
- パレオゲノミクス
- 神経免疫学
背景:
- 多発性硬化症 (MS) は神経炎症性および神経変性疾患で,北ヨーロッパでは高い罹患率があります.
- MSの遺伝的リスクは 免疫関連の遺伝子と関連していますが その起源は不明です
- MSの遺伝的リスクの歴史的発生を 理解することは 現代の病気の予防に不可欠です
研究 の 目的:
- 多発性硬化症の遺伝的危険因子の古代起源と進化の軌道を調査する.
- ヨーロッパにMSの遺伝的リスクを導入した特定の集団と移住を特定する.
- MSに関連した免疫遺伝的変異の流行を促した選択的圧力を調査する.
主な方法:
- 中石器時代,新石器時代,青銅器時代,中世,中世後の大きな古代ゲノムデータセットの分析
- MSリスクに関連する古代DNAセグメントを特定するために,現代の集団とのゲノム比較.
- 移住パターンと選択圧力を推測するための集団遺伝分析.
主要な成果:
- MSの遺伝的リスクは ポントスの草原の牧民集団から生じました
- 約5,000年前のヤムナヤ関連移住で 遺伝子変異がヨーロッパに伝わりました
- これらの免疫遺伝的変異のポジティブな選択は,おそらく環境や生活習慣の変化により,草原の集団や後にヨーロッパで発生した.
結論:
- 新石器時代と青銅器時代は 現代の免疫反応とMSリスクの形成に 重要な役割を果たしました
- 古代の移住とそれに続く環境的圧力は,多発性硬化症の進化に重要な役割を果たしました.
- この研究は 多発性硬化症の遺伝的決定因子に関する 歴史的な見方を示しています
さらに関連する動画
関連する概念動画
Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
Incomplete Dominance
22.6K
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.
22.6K
Single Nucleotide Polymorphisms-SNPs
15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
Human Genetics
572
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...
572
Autoimmune Disorders
442
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
442
Conservation of Small Populations
13.1K
Small population sizes put a species at extreme risk of extinction due to a lack of variation, and a consequent decrease in adaptability. This weakens the chances of survival under pressures such as climate change, competition from other species, or new diseases. Large populations are more likely to survive pressures such as these, as such populations are more likely to harbor individuals that have genetic variants that are adaptive under new stresses. Small populations are much less...
13.1K


