在CADASIL的疾病负担和表型中的基于性别的差异:368名韩国患者的多中心研究
Joong-Goo Kim1, Jay Chol Choi1, Chul-Hoo Kang1
1Department of Neurology, Jeju National University Hospital, Jeju National University College of Medicine, South Korea.
Neurology. Genetics
|March 13, 2026
概括
与皮下心脏病发作和白细胞脑膜病变 (CADASIL) 相关的大脑自体主导动脉病变的男性比女性更频繁和更早地发生缺血性中风. 这项研究突出了韩国人的性别特异性CADASIL表现,强调了需要基于性别的临床管理.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 血管疾病 血管疾病
背景情况:
- 大脑自体主导动脉病变与皮下心脏病发作和白脑病变 (CADASIL) 在不同人群的临床表现中表现出各种性别差异.
- 亚洲人群中性别特异的CADASIL表型的证据有限,在亚洲人群中,遗传和临床特征可能有所不同.
- 研究韩国CADASIL患者的性别差异对于理解疾病异质性至关重要.
研究的目的:
- 研究韩国CADASIL患者临床表型的性别特异性变异.
- 为了分析韩国CADASIL患者的大脑MRI特征的性别差异.
- 为了比较男性和女性CADASIL患者之间的缺血性中风和痴呆的发病率.
主要方法:
- 全国对368名患有致病性NOTCH3变异的韩国患者进行了回顾性研究.
- 性别之间的临床特征,血管风险因素和NOTCH3变体位置的比较.
- 评估大脑MRI发现 (WMHs,缺口,微型血液,缩) 并使用生存模型分析中风和痴呆发作的性别差异.
主要成果:
- 男性的缺血性中风患病率显著更高 (70.9%与44.4%) 和早期发病 (中位数为53岁与59岁).
- 男性的性别独立地与MRI (OR 3.03) 上更大的缺口负担有关.
- 女性性别倾向于与较高的白质强度 (WMH) 相关.
结论:
- 在韩国人群中,CADASIL呈现的明显性别差异存在,男性经历更严重的缺血事件.
- 缺血性中风患病率和发病率的这些差异并不能完全由传统的血管风险因素解释.
- 整合性别,荷尔蒙和遗传因素对于精确的表型和基于性别的CADASIL临床管理至关重要.
相关概念视频
Coronary Artery Disease I: Introduction
1.4K
Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
1.4K
Pedigree Analysis
90.4K
Overview
90.4K
Genome-wide Association Studies-GWAS
16.4K
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...
16.4K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
83
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
83
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT
695
Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
695
Sex Linked Disorders
28.5K
28.5K


