遗传和环境因素导致先天性单独功能脏
Sander Groen In 't Woud1,2, Marleen M H J van Gelder1, Iris A L M van Rooij1
1Radboud University Medical Center, Department for Health Evidence, Nijmegen, The Netherlands.
概括
基因与环境的相互作用可能在先天性单独功能脏 (CSFK) 中起作用. 一个特定的基因变异 (rs3098698) 与母亲的超重相互作用,显示出显著的关联,表明一个潜在的途径. 需要进一步的研究.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 环境健康 环境健康
背景情况:
- 先天性孤独功能 (CSFK) 与高血压,白蛋白尿和慢性病有关.
- 导致CSFK的原因是复杂的,涉及遗传和环境因素.
- 基因与环境相互作用 (G×E) 与其他先天性异常有关,但尚未对CSFK.进行研究.
研究的目的:
- 研究基因与环境相互作用 (G×E) 在先天性孤独功能 (CSFK) 的病因中的作用.
- 使用六个预选的环境因素进行全基因组G×E分析.
主要方法:
- 利用了AGORA数据和生物库,包括全基因组单核酸变异 (SNV) 数据和产前环境暴露问卷数据.
- 分析了381名CSFK患者和598名健康对照.
- 采用了两步策略,包括SNV选择和随后的G×E分析,使用Bonferroni校正的逻辑回归.
主要成果:
- 确定了一个显著的G×E:rs3098698与母亲超重的相互作用 (P=0.0016).
- 这种相互作用可能涉及降低ARSB基因表达和降低 heterozygous 儿童的胰岛素受体活性.
- 其他八个G×E相互作用显示P值<0.05,其中两个是生物可信的进一步调查.
结论:
- 基因与环境的相互作用可能有助于CSFK的发展.
- 需要进行更大规模的综合遗传和环境数据的研究,以充分阐明G×E在CSFK病因学中的作用.
更多相关视频
07:35Efficient Vascularization of Kidney Organoids through Intracelomic Transplantation in Chicken Embryos
Published on: February 17, 2023
1.8K
08:46Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
9.8K
相关概念视频
Renal Tubule and Collecting Duct
1.1K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
1.1K
Kidney Structure
69.9K
The kidneys are two large bean-shaped organs located in the upper abdomen. They filter the blood several times a day to remove toxins and rebalance water and electrolytes of the circulatory system via the renal veins. The kidneys receive blood directly from the heart via the renal arteries. These arteries enter the kidney at the hilum, the concave surface of the bean, where they branch and divide into smaller vessels and capillaries.
69.9K
Chronic Kidney Disease I: Introduction
20
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage kidney disease (ESKD). At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate...
20
External Anatomy of the Kidney
1.2K
The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
1.2K
Kidney Transplant I: Introduction
14
A kidney transplant is a surgical approach that involves replacing a non-functioning kidney with a healthy one from a donor. This procedure is often a treatment option for end-stage renal disease (ESRD) patients. The method requires careful recipient selection, including evaluating various medical and psychosocial factors. These criteria vary between transplant centers but generally include assessments of the patient's overall health, adherence to medical recommendations, and lifestyle...
14
Nephrons
2.7K
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
2.7K
