多基因风险改变了单基因病的透率
Atlas Khan1, Ning Shang1, Jordan G Nestor1
1Division of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Nature communications
|December 14, 2023
概括
多基因风险评分有助于预测慢性病 (CKD) 在单基因病如自体主导多囊性病 (ADPKD) 的个体. 这些遗传信息改善了携带这些特定基因变异的患者的风险评估.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 遗传学 是一个
- 基因组医学是基因组医学.
背景情况:
- 慢性病 (CKD) 是由遗传和环境因素引起的.
- 自体主导多囊性病 (ADPKD) 和COL4A相关病 (COL4A-AN) 是常见的单一性病.
- 在单一性脏疾病中,不完全的透率和可变的表达性表明其他遗传因素的作用.
研究的目的:
- 调查多基因因素在携带单基因病变体的携带者中慢性病风险变化的作用.
- 为了确定全基因组多基因分数 (GPS) 是否可以预测ADPKD和COL4A-AN患者的CKD.
主要方法:
- 利用了来自英国生物银行和All-of-Us队列的SNP阵列,外基因组/基因组测序和电子健康记录数据.
- 为参与者计算了全基因组多基因分数 (GPS).
- 分析了GPS和CKD风险在单基性病变体携带者之间的关联.
主要成果:
- 在ADPKD携带者中,GPS和CKD风险之间发现了显著的关联.
- 在最高GPS三位数中的ADPKD携带者与中三位数中的非携带者相比,CKD风险增加了54倍.
- 此外,GPS还预测COL4A-AN载体的CKD,最高三位数的COL4A-AN载体的风险是2.5倍.
结论:
- 多基因因素对单基因脏疾病中的CKD风险变化有显著的贡献.
- 全基因组多基因评分可以改善ADPKD和COL4A-AN.AN中CKD风险的分层.
- 综合多基因风险评估可以提高单基因病的临床管理.
更多相关视频
08:46Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
9.8K
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.8K
相关概念视频
01:10Nephrons
2.5K
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...
2.5K
01:35Pedigree Analysis
84.3K
Overview
84.3K
01:17Factors Affecting Renal Clearance: Renal Impairment
98
Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
98
01:11Genetic Lingo
102.9K
Overview
102.9K
01:20Renal Corpuscle
2.3K
The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
2.3K
01:49Probability Laws
40.9K
Overview
40.9K