Preventive and Personalized Medicine (2021-2023)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- number of SNPs associated with epilepsy
研究概览
简要总结
This is a GWAS study that aims to identify possible candidate genes associate to epilepsy by exploring single nucleotide polymorphism (SNP) in a group of epilepsy, in the Kazakh population. The investigators hypothesize that the careful phenotyping of the subject sand matching with increase the power to find SNP significantly associate with epilepsy
详细描述
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases. The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. Once such genetic markers are identified, they can be used to understand how genes contribute to the disease and develop better prevention and treatment strategies
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children with seizures, confirmed by EEG and no morphological damage to the brain, confirmed by MRI of the brain;
- •The age of the patients is from 0 to 5 years;
- •Persons of Kazakh nationality, whose paternal and maternal grandparents are Kazakhs;
- •Children are parents or legal guardians who have given written informed consent.
排除标准
- •Children over 5 years old;
- •Children whose parents, according to the researcher, are mentally or legally incapacitated, which prevents obtaining informed consent;
- •Children with seizures with brain damage that cause epilepsy;
- •Children of a non-Kazakh ethnic group.
结局指标
主要结局
number of SNPs associated with epilepsy
时间窗: 1 year
Using GWAS to identify candidate genes associate with epilepsy
次要结局
未报告次要终点
研究者
Ildar Fakhradiyev
Head of the Laboratory of Experimental Medicine
Asfendiyarov Kazakh National Medical University