自闭症的家族风险 自闭症的家族风险
Sven Sandin1, Paul Lichtenstein2, Ralf Kuja-Halkola2
1Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden2Department of Psychosis Studies, Institute of Psychiatry, King's College London, United Kingdom.
JAMA
|May 6, 2014
概括
自闭症谱系障碍 (ASD) 的风险随着遗传相关性而增加,遗传率估计为50%. 这些发现对于ASD影响家庭的遗传咨询至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 精神病学是一个精神病学.
- 流行病学 流行病学
背景情况:
- 自闭症谱系障碍 (ASD) 表现出家族聚合,但遗传与环境因素对个体风险的确切贡献仍然不清楚.
- 了解自闭症病因对于准确的风险评估和家庭咨询至关重要.
研究的目的:
- 估计自闭症谱系障碍 (ASD) 的家族聚合和遗传性.
- 阐明遗传和环境因素在ASD病因学中的作用.
主要方法:
- 瑞典的一项基于人口的大规模队列研究,涉及1982年至2006年间出生的200多万名儿童.
- 利用广泛的兄弟姐妹和表妹对来计算ASD的相对复发风险 (RRR).
- 采用统计模型来估计附加遗传,主导遗传,共享环境和非共享环境因素对ASD的贡献.
主要成果:
- 自闭症的相对复发风险 (RRR) 随着更紧密的遗传关系而显著增加,从表亲 (RRR=2.0) 到单胞胎双胞胎 (RRR=153.0).
- 对ASD的遗传概率估计约为50% (0.50),对于自闭症障碍也有类似的发现.
- 最适合数据的病因模型仅包括添加基因和非共享环境影响.
结论:
- 患ASD和自闭症障碍的个体风险随着遗传关系的增加而升级.
- 据估计,自闭症和自闭症障碍的遗传率约为50%,突出显示了大量的遗传成分.
- 这些发现为家族有ASD史的遗传咨询和风险评估提供了有价值的信息.
相关概念视频
Autism Spectrum Disorder
2.0K
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.
2.0K
Pedigree Analysis
78.8K
Overview
78.8K
Biological Causes of Schizophrenia
1.2K
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
1.2K
Cancer Prevention
6.5K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.5K
Behavioral Genetics and Its Designs
1.5K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.5K
Psychological and Sociocultural Causes of Schizophrenia
977
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
977


