全表观基因组关联研究,非洲裔美国成年人BMI的分析
medRxiv : the preprint server for health sciences
|January 27, 2025
概括
关于肥胖的表观遗传研究正在扩大,包括非洲裔美国人,确定与体重指数 (BMI) 相关的新型甲基化部位. 这项研究解决了理解肥胖症的差距.
科学领域:
- 遗传学和表观遗传学
- 公共卫生 公共卫生
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 肥胖病因有显著的知识差距,遗传变异只解释了一小部分遗传性.
- 表观遗传调节可能解释肥胖的"遗传性缺失".
- 现有的肥胖表观基因组广泛关联研究 (EWAS) 主要在欧洲祖先人群中,尽管非洲裔美国人 (AAs) 的肥胖负担更高.
研究的目的:
- 在非洲裔美国人 (AA) 参与者中进行BMI全基因组关联研究 (EWAS) 的元分析.
- 在AAS中识别与肥胖相关的新型表观遗传标记.
- 调查与肥胖相关的表观遗传调节中的种族/民族差异.
主要方法:
- 在AA参与者中使用杰克逊心脏研究 (JHS) 和动脉样硬化多民族研究 (MESA) 的数据来对BMI进行EWAS的元分析.
- 线性回归模型分析了连续BMI作为预测因子的甲基化位点 (CpG),按研究和性别分层.
- 进行了差异甲基化区域 (DMR) 分析和途径分析.
主要成果:
- 确定了208个全表观基因组显著的CpG,其中151个是新的.
- 在一个独立的AA样本中复制了20个新的CpG.
- 54个DMR与BMI显著相关,包括在SOCS3,ABCG1和TGFB1.1.等基因附近的区域.
- 丰富分析显示了与免疫和炎症通路的关联,包括IL-6/JAK/STAT通路.
结论:
- 这次非洲裔美国人的EWAS发现了新的与肥胖相关的CpG,并复制了已知的关联.
- 这些发现有助于理解在代表性不足的人群中肥胖的表观遗传基础.
- 表观遗传因素在肥胖病因学中发挥着作用,特别是在不同的种族和种族群体中.
相关概念视频
Genome-wide Association Studies-GWAS
12.4K
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...
12.4K
Obesity
371
The Body Mass Index (BMI) is a numerical value derived from a person's weight and height, used to categorize individuals into weight ranges. It is calculated using the formula: weight in kilograms divided by height in meters squared. Obesity is a health condition characterized by excessive accumulation of adipose tissue that poses health risks, often diagnosed with a BMI ≥ 30. This excess fat storage occurs when surplus dietary calories are converted into triglycerides and stored in...
371
Background and Environment Affect Phenotype
6.4K
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...
6.4K
Nature and Nurture
20.4K
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,...
20.4K


