患有自闭症谱系障碍的儿童及其母亲的遗传性血栓友爱参数
Perihan Cam Ray1, Merve Doğan1, Sevcan Bozdoğan2
1Department of Child and Adolescent Psychiatry, Cukurova University Faculty of Medicine, Adana, Türkiye.
Frontiers in pediatrics
|December 29, 2025
概括
在患有自闭症谱系障碍 (ASD) 的儿童及其母亲中,FXIII-Val34Leu基因变异更为常见,增加了ASD风险. 需要进一步的研究来探索ASD中的血栓性标记物.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,具有已知的遗传和环境影响.
- 新出现的证据表明,遗传性血栓症和自闭症之间存在潜在的联系,可能是由于胎盘问题和神经炎症.
- 血栓形成症是一种增加血栓风险的疾病,涉及可能影响怀孕和胎儿发育的遗传因素.
研究的目的:
- 在被诊断为ASD的儿童及其母亲中调查与血栓相关的特定遗传多态度的频率.
- 确定这些遗传变异是否与患ASD的风险增加有关.
- 探索母体血栓与后代的ASD之间的潜在联系.
主要方法:
- 一项病例对照研究,将24名患有自闭症的儿童 (2-6岁) 和他们的母亲与24名年龄相匹配的健康儿童和他们的母亲进行比较.
- 使用PCR检测血栓性多态性的基因分析:FVL G1691A,FII G20210A,MTHFR C677T,MTHFR 1298AC,FXIII-Val34Leu,以及PAI-1 4G/5G. 这三种基因组的基因分析包括:
- 使用统计分析,包括逻辑回归来评估多态和自闭症之间的关联,并控制相关因素.
主要成果:
- 与对照组 (分别为8.3%和16.7%) 相比,在患有自闭症的儿童 (37.5%) 和他们的母亲 (54.2%) 中,FXIII-Val34Leu异构配体变异明显更为普遍.
- 后勤回归表明,无论母亲还是孩子的FXIII-Val34Leu异合体多态化增加了ASD的几率大约4.130倍.
- 在其他测试的ASD病例和对照病例之间,对于其他测试的血栓性多态症没有发现显著差异. 患有自闭症的儿童也表现出发育迟缓.
结论:
- 在患有自闭症儿童和他们的母亲中,FXIII Val34Leu突变明显更频繁,这表明潜在的遗传风险因素.
- 这一发现强调了FXIII Val34Leu多态性作为ASD风险的潜在标志物.
- 进一步的大规模,纵向研究是必要的,以证实这些发现,并探索血栓友标志物在ASD病原体中的作用.
相关概念视频
Autism Spectrum Disorder
892
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
892
Pedigree Analysis
88.7K
Overview
88.7K
Disorders of Hemostasis
1.9K
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
1.9K
Anticoagulant Drugs: Low-Molecular-Weight Heparins
1.6K
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
1.6K
Probability Laws
43.8K
Overview
43.8K
Genome-wide Association Studies-GWAS
15.2K
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...
15.2K


