子宫内膜异位症 - 在现代环境污染物和古代遗传调节变体的交叉点上
Amelia Warren1, Demetra Andreou1, Dean Warren2
1Department of Life and environmental Sciences, Bournemouth University, Bournemouth, BH12 5BB, England.
European journal of human genetics : EJHG
|November 20, 2025
概括
古代遗传变异,包括尼安德特人和丹尼索瓦人内进的变异,通过与环境暴露相互作用,可能会增加子宫内膜异位症的风险. 这一发现为早期检测子宫内膜异位症提供了潜在的生物标志物.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 生殖健康 生殖健康
- 免疫学 免疫学 免疫学
背景情况:
- 子宫内膜异位症影响全球10%的生育年龄妇女,呈现为慢性,雌激素驱动的炎症性疾病.
- 虽然晚期子宫内膜异位症具有基因组洞察力,但早期的遗传因素仍然不清楚,阻碍了及时诊断.
- 了解遗传易感性对于开发有效的早期检测和干预策略至关重要.
研究的目的:
- 调查调控变异的作用,包括古人类的内进,在早期的子宫内膜异位症易感性.
- 探索古老变体和内分泌破坏性化学物质 (EDCs) 之间的潜在基因环境相互作用.
- 确定用于早期检测子宫内膜异位症的新生物标志物.
主要方法:
- 一项双相文献综述确定了参与子宫内膜异位症和EDC敏感性的基因.
- 分析了来自19名子宫内膜异位症患者的全基因组测序数据 (英格兰基因组学10万个基因组项目).
- 使用公共监管数据库进行了变异丰富,共同本地化,链接不平衡和功能影响分析.
主要成果:
- 与对照组相比,在子宫内膜异位症患者中,六种调节变异显著丰富.
- 位于尼安德特人衍生的甲基化部位的IL-6变体rs2069840和rs34880821显示出强烈的联系和潜在的免疫失调.
- 与CNR1和IDO1相关的变异,其中一些是丹尼索瓦人起源的,重叠EDC响应区域,表明基因与环境的相互作用.
结论:
- 古老的调节变异,可能与EDC相互作用,有助于子宫内膜异位症的易感性.
- 这些发现为子宫内膜异位症的发病过程提供了新的视角,将古代遗传与现代环境因素联系起来.
- 已识别的变异代表了早期内膜异位症检测和风险评估的潜在生物标志物.
相关概念视频
02:07Oogenesis
68.9K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
68.9K
02:27Background and Environment Affect Phenotype
7.4K
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...
7.4K
01:20Gene-Environment Interactions
1.0K
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...
1.0K
01:37Epigenetic Regulation
3.7K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.7K
01:46Epigenetic Regulation
33.4K
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
33.4K
02:30Genomic Imprinting and Inheritance
36.7K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.7K