转录组和蛋白质组范围的关联研究提名了功能和损伤的决定因素
Pascal Schlosser1, Jingning Zhang2, Hongbo Liu3
1Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. pschlos3@jhu.edu.
Genome biology
|June 26, 2023
概括
整合多omics数据揭示了影响功能和疾病的关键基因和蛋白质. 这项研究确定了脏过和损伤的因果决定因素,为未来的研究铺平了道路.
科学领域:
- 基因组学就是基因组学.
- 蛋白质组学是指蛋白质组学.
- 腎臟病學 (nephrology) 是一種醫學專業.
- 系统生物学 系统生物学
背景情况:
- 脏疾病的病理生理学仍然不完全理解.
- 全基因组关联研究 (GWAS) 对于识别遗传风险因素至关重要.
- 多学科的整合提供了一个强大的方法来揭示复杂疾病的因果机制.
研究的目的:
- 确定影响功能和损伤的因果基因和蛋白质.
- 整合全基因组的遗传,转录和蛋白质数据.
- 为脏疾病提名新的治疗点.
主要方法:
- 在多种组织 (皮质,小管,肝脏,全血) 中进行了全转录组关联研究 (TWAS).
- 在血中进行了全蛋白质组关联研究 (PWAS).
- 采用了局部化分析来优先考虑基因组区域并识别因果变异.
主要成果:
- 在260个基因组区域中确定了1561个假定因果关联.
- 通过局部化分析优先确定了153个基因组区域.
- 发现了特定组织的基因表达 (例如,NRBP1的管体表达) 和基因组区域内的独立关联 (例如,INHBC,SPRYD4).
- 发现INHBC对病进展的预后价值.
结论:
- 多种OMIC GWAS提供了对功能和损伤的因果基因和蛋白质的目录.
- 这些发现指导了脏生理学,基础科学和临床医学方面的未来研究.
- 这项研究强调了整合各种分子数据的潜力,以了解病.
相关概念视频
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
Chronic Kidney Disease I: Introduction
43
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...
43
Acute Kidney Injury IV: Diagnostic Studies and Prevention
40
Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
40
Acute Kidney Injury II: Pathophysiology
37
Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
37
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
Nephrons
3.1K
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...
3.1K


